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This lecture was conducted during the Nephrology Unit Grand Ground by Registrar under Nephrology Division under the supervision and administration of Prof.

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Presentation on theme: "This lecture was conducted during the Nephrology Unit Grand Ground by Registrar under Nephrology Division under the supervision and administration of Prof."— Presentation transcript:

1 This lecture was conducted during the Nephrology Unit Grand Ground by Registrar under Nephrology Division under the supervision and administration of Prof. Jamal Al Wakeel, Head of Nephrology Unit, Department of Medicine and Dr. Abdulkareem Al Suwaida, Chairman of Department of Medicine. Nephrology Division is not responsible for the content of the presentation for it is intended for learning and /or education purpose only.

2 Evaluating the child with chronic diarrhea Presented by: Dr.Habib-ur-Rahman Registrar August 2008

3 Definition. Diarrhea is loosely defined as passage of abnormally liquid or unformed stools at an increased frequency. Diarrhea is loosely defined as passage of abnormally liquid or unformed stools at an increased frequency. For adults on a typical Western diet, stool weight >200 g/d can generally be considered diarrheal. For adults on a typical Western diet, stool weight >200 g/d can generally be considered diarrheal. Acute; < 2 weeks. Acute; < 2 weeks. Persistent; 2- 4 weeks Persistent; 2- 4 weeks Chronic ; > 4 weeks. Chronic ; > 4 weeks.

4 causes of chronic diarrhea in children Infections Infections Intolerance to cow's milk or soy protein Intolerance to cow's milk or soy protein Chronic nonspecific diarrhea of childhood Chronic nonspecific diarrhea of childhood Overfeeding Overfeeding Disaccharidase deficiencies Disaccharidase deficiencies Glucose-galactose malabsorption Glucose-galactose malabsorption Celiac disease Celiac disease Pancreatic disorders Pancreatic disorders Cystic fibrosis Cystic fibrosis Shwachman-Diamond syndrome Shwachman-Diamond syndrome Inflammatory bowel diseases Ulcerative colitis Crohn's disease Inflammatory bowel diseases Ulcerative colitis Crohn's disease

5 causes of chronic diarrhea in children Drug-induced diarrhea Antibiotics Laxatives Drug-induced diarrhea Antibiotics Laxatives Immunodeficiency states Immunodeficiency states Short-bowel syndrome Short-bowel syndrome Chronic constipation with overflow diarrhea Chronic constipation with overflow diarrhea Hyperthyroidism Hyperthyroidism Functional tumors Functional tumors Acrodermatitis enteropathica Acrodermatitis enteropathica Intestinal lymphangiectasia Intestinal lymphangiectasia Abetalipoproteinemia Abetalipoproteinemia Congenital chloride-losing diarrhea Congenital chloride-losing diarrhea

6 INFECTIONS Gastrointestinal infection is by far the most common cause of chronic diarrhea in children.The major bacterial pathogens include enteropathogenic and enterohemorrhagic Escherichia coli, Salmonella species, Shigella species, Yersinia enterocolitica and Campylobacter jejuni.Major parasitic causes of chronic diarrhea include Giardia lamblia, Entamoeba histolytica and Cryptosporidium species. Common viral agents include rotavirus, adenovirus, Norwalk virus and the enteroviruses. Gastrointestinal infection is by far the most common cause of chronic diarrhea in children.The major bacterial pathogens include enteropathogenic and enterohemorrhagic Escherichia coli, Salmonella species, Shigella species, Yersinia enterocolitica and Campylobacter jejuni.Major parasitic causes of chronic diarrhea include Giardia lamblia, Entamoeba histolytica and Cryptosporidium species. Common viral agents include rotavirus, adenovirus, Norwalk virus and the enteroviruses. Acute infectious gastroenteritis may be complicated by postenteritis diarrhea occurring after damage to the small intestinal mucosa, with resulting secondary disaccharidase deficiency and carbohydrate intolerance. Typically, patients with postenteritis diarrhea relapse with diarrhea when lactose-containing foods are reintroduced into the diet. In infants and young children, systemic infections, such as a urinary tract infection, may occasionally be associated with chronic diarrhea. Acute infectious gastroenteritis may be complicated by postenteritis diarrhea occurring after damage to the small intestinal mucosa, with resulting secondary disaccharidase deficiency and carbohydrate intolerance. Typically, patients with postenteritis diarrhea relapse with diarrhea when lactose-containing foods are reintroduced into the diet. In infants and young children, systemic infections, such as a urinary tract infection, may occasionally be associated with chronic diarrhea.

7 INTOLERANCE TO PROTEIN Protein intolerance, especially to cow's milk or soy protein, is a common cause of chronic diarrhea. Symptoms usually occur before six months of age. Associated manifestations include bloody diarrhea, anemia, protein-losing enteropathy and extraintestinal manifestations of allergy, such as eczema, hives or asthma. Protein intolerance, especially to cow's milk or soy protein, is a common cause of chronic diarrhea. Symptoms usually occur before six months of age. Associated manifestations include bloody diarrhea, anemia, protein-losing enteropathy and extraintestinal manifestations of allergy, such as eczema, hives or asthma.

8 CHRONIC NONSPECIFIC DIARRHEA Chronic nonspecific diarrhea of childhood is one of the most common causes of chronic diarrhea. This benign, self-limited disorder usually presents in children between the ages of six months and three years.The male to female ratio is 2:1. Chronic nonspecific diarrhea of childhood is one of the most common causes of chronic diarrhea. This benign, self-limited disorder usually presents in children between the ages of six months and three years.The male to female ratio is 2:1. The syndrome is characterized by persistent or recurrent episodes of voluminous loose stools, usually with six or more stools per day. Undigested food particles may be noted in the stools. Nocturnal diarrhea is absent. Despite having diarrhea, children with this disorder thrive and appear healthy. The syndrome is characterized by persistent or recurrent episodes of voluminous loose stools, usually with six or more stools per day. Undigested food particles may be noted in the stools. Nocturnal diarrhea is absent. Despite having diarrhea, children with this disorder thrive and appear healthy.

9 CHRONIC NONSPECIFIC DIARRHEA The exact etiology of chronic nonspecific diarrhea of childhood is not clear. The syndrome may occur after a viral infection or the institution of dietary restrictions, such as the elimination of milk and dairy products. In one study, the mouth-to-anus transit time of food in children with chronic nonspecific diarrhea was found to be shorter than in age-matched control subjects. Emotional stress and excessive ingestion of cold or hyperosmolar fluid (fruit juice) have also been implicated as possible causative factors The exact etiology of chronic nonspecific diarrhea of childhood is not clear. The syndrome may occur after a viral infection or the institution of dietary restrictions, such as the elimination of milk and dairy products. In one study, the mouth-to-anus transit time of food in children with chronic nonspecific diarrhea was found to be shorter than in age-matched control subjects. Emotional stress and excessive ingestion of cold or hyperosmolar fluid (fruit juice) have also been implicated as possible causative factors

10 OVERFEEDING Excessive intake of fluids, especially hyperosmolar fruit juice, may cause chronic diarrhea.Osmotic diarrhea can be caused by common dietary sugars such as sorbitol and fructose. Sorbitol is found in significant concentrations in prunes, pears, peaches, apple juice and sugar-free gum. Fructose is found in honey, dried figs, dried dates, prunes and some soft drinks.In children with diarrhea resulting from excess hyperosmolar fluid intake, the first stools of the day are usually formed.

11 DISACCHARIDASE DEFICIENCIES Primary deficiencies of disaccharidase (i.e., lactase, sucrase or isomaltase) are rare. However, secondary disaccharidase deficiencies are common, and they are associated with other gastrointestinal disorders, including infection, bacterial over-growth and untreated celiac disease. Typically, diarrhea resulting from disaccharidase deficiency is explosive and watery. Other symptoms include abdominal pain, bloating and flatulence Primary deficiencies of disaccharidase (i.e., lactase, sucrase or isomaltase) are rare. However, secondary disaccharidase deficiencies are common, and they are associated with other gastrointestinal disorders, including infection, bacterial over-growth and untreated celiac disease. Typically, diarrhea resulting from disaccharidase deficiency is explosive and watery. Other symptoms include abdominal pain, bloating and flatulence

12 GLUCOSE-GALACTOSE MALABSORPTION Primary monosaccharide malabsorption is rare and is inherited as an autosomal recessive trait. The characteristic defect is an impairment in the ability of cells in the intestinal mucosa to actively transport glucose and galactose, so that only about 10 percent of the ingested glucose and galactose can be absorbed.This absorption disorder, which usually presents in neonates, is characterized by watery diarrhea with an acidic stool. Primary monosaccharide malabsorption is rare and is inherited as an autosomal recessive trait. The characteristic defect is an impairment in the ability of cells in the intestinal mucosa to actively transport glucose and galactose, so that only about 10 percent of the ingested glucose and galactose can be absorbed.This absorption disorder, which usually presents in neonates, is characterized by watery diarrhea with an acidic stool.

13 CELIAC DISEASE Celiac disease is associated with villous atrophy of the proximal small intestine. This condition is the result of a permanent intolerance to the gliadin fraction of gluten protein. Celiac disease has a strong association with histocompatibihty-type human leukocyte antigens (HLAs), such as HLA-B8 and class II HLA-DR3, HLA-DR7, HLA-DQ, HLA-W2 and HLA-DR4. Celiac disease is associated with villous atrophy of the proximal small intestine. This condition is the result of a permanent intolerance to the gliadin fraction of gluten protein. Celiac disease has a strong association with histocompatibihty-type human leukocyte antigens (HLAs), such as HLA-B8 and class II HLA-DR3, HLA-DR7, HLA-DQ, HLA-W2 and HLA-DR4. Symptoms can develop any time after gluten (e.g., wheat, barley, rye) is introduced into the diet. Most children with celiac disease present at six to 24 months of age. Major manifestations include chronic diarrhea, anorexia, failure to thrive, muscle wasting, irritability and abdominal distention. Characteristically, the stools are pale, loose, bulky and oily, and they have a pungent odor. Symptoms can develop any time after gluten (e.g., wheat, barley, rye) is introduced into the diet. Most children with celiac disease present at six to 24 months of age. Major manifestations include chronic diarrhea, anorexia, failure to thrive, muscle wasting, irritability and abdominal distention. Characteristically, the stools are pale, loose, bulky and oily, and they have a pungent odor.

14 PANCREATIC DISORDERS Cystic fibrosis, the most common pancreatic disorder causing chronic diarrhea, is inherited as an autosomal recessive trait. The gene responsible for cystic fibrosis has been localized to the long arm of chromosome 7. Cystic fibrosis, the most common pancreatic disorder causing chronic diarrhea, is inherited as an autosomal recessive trait. The gene responsible for cystic fibrosis has been localized to the long arm of chromosome 7. The triad of pancreatic exocrine deficiency, chronic obstructive pulmonary disease and an abnormally high level of chloride in the sweat is present in most patients.Clinically, the disease may manifest as steatorrhea (fat-containing stools) with malabsorption, meconium inspissation in the neonatal period, prolonged neonatal jaundice, growth retardation, anasarca, recurrent or chronic chest infections, nasal polyps, rectal prolapse or digital clubbing. Even though they have voracious appetites, most children with cystic fibrosis remain malnourished The triad of pancreatic exocrine deficiency, chronic obstructive pulmonary disease and an abnormally high level of chloride in the sweat is present in most patients.Clinically, the disease may manifest as steatorrhea (fat-containing stools) with malabsorption, meconium inspissation in the neonatal period, prolonged neonatal jaundice, growth retardation, anasarca, recurrent or chronic chest infections, nasal polyps, rectal prolapse or digital clubbing. Even though they have voracious appetites, most children with cystic fibrosis remain malnourished

15 Shwachman-Diamond syndrome characterized by neutropenia and pancreatic insufficiency. Other features include short stature and skeletal abnormalities. The disease is usually inherited as an autosomal recessive trait, but an autosomal dominant mode of inheritance has also been reported. Shwachman- diamond syndrome may be differentiated from cystic fibrosis by the presence of normal levels of sweat chloride and the absence of pulmonary disease. characterized by neutropenia and pancreatic insufficiency. Other features include short stature and skeletal abnormalities. The disease is usually inherited as an autosomal recessive trait, but an autosomal dominant mode of inheritance has also been reported. Shwachman- diamond syndrome may be differentiated from cystic fibrosis by the presence of normal levels of sweat chloride and the absence of pulmonary disease.

16 INFLAMMATORY BOWEL DISEASE Inflammatory bowel disease frequently develops in late childhood or during adolescence. This disorder is characterized by unpredictable remissions and exacerbations. The etiology of inflammatory bowel disease is unknown, but genetic factors appear to make persons with this disorder more vulnerable to an immunologically related inflammatory reaction. Inflammatory bowel disease frequently develops in late childhood or during adolescence. This disorder is characterized by unpredictable remissions and exacerbations. The etiology of inflammatory bowel disease is unknown, but genetic factors appear to make persons with this disorder more vulnerable to an immunologically related inflammatory reaction. Ulcerative colitis is an inflammatory disease that most commonly involves the mucosa of the colon and rectum. Predominant symptoms include bloody diarrhea, lower abdominal cramps and tenesmus. Anorexia, malaise, weight loss and growth failure occur as the disease progresses. Ulcerative colitis is an inflammatory disease that most commonly involves the mucosa of the colon and rectum. Predominant symptoms include bloody diarrhea, lower abdominal cramps and tenesmus. Anorexia, malaise, weight loss and growth failure occur as the disease progresses. Older children may have extraintestinal manifestations, including arthritis, erythema nodosum, pyoderma gangrenosum, iritis, hepatitis, digital clubbing and intermittent fever. Older children may have extraintestinal manifestations, including arthritis, erythema nodosum, pyoderma gangrenosum, iritis, hepatitis, digital clubbing and intermittent fever.

17 INFLAMMATORY BOWEL DISEASE Crohn's disease is a segmental transmural inflammatory disease that may affect one or more segments of the gastrointestinal tract, from the mouth to the anus. The distal ileum and colon are the bowel segments most commonly affected. Crohn's disease is a segmental transmural inflammatory disease that may affect one or more segments of the gastrointestinal tract, from the mouth to the anus. The distal ileum and colon are the bowel segments most commonly affected. The classic symptom triad includes bloody diarrhea, abdominal pain and weight loss. The classic symptom triad includes bloody diarrhea, abdominal pain and weight loss. Stomatitis and chronic perianal lesions, such as fissures, fistulas and abscesses, may be present bullous and eczematous lesions symmetrically distributed in the perioral, acral and perineal areas. Stomatitis and chronic perianal lesions, such as fissures, fistulas and abscesses, may be present bullous and eczematous lesions symmetrically distributed in the perioral, acral and perineal areas.

18 INTESTINAL LYMPHANGIECTASIA In children with intestinal lymphangiectasia, rupture of the intestinal mucosal lacteals may result in massive gastrointestinal loss of fat and protein. Consequently, lymph may leak into the bowel lumen. Children with this condition typically have steatorrhea, protein-losing enteropathy, anemia, malnutrition and growth retardation. In children with intestinal lymphangiectasia, rupture of the intestinal mucosal lacteals may result in massive gastrointestinal loss of fat and protein. Consequently, lymph may leak into the bowel lumen. Children with this condition typically have steatorrhea, protein-losing enteropathy, anemia, malnutrition and growth retardation.

19 ABETALIPOPROTEINEMIA Abetalipoproteinemia is a disorder resulting from the inability to form chylomicrons in the intestinal mucosa. Abetalipoproteinemia is a disorder resulting from the inability to form chylomicrons in the intestinal mucosa. Typically, children with this rare autosomal recessive disorder present with diarrhea, failure to thrive, acanthocytosis, retinitis pigmentosa and cerebellar ataxia Typically, children with this rare autosomal recessive disorder present with diarrhea, failure to thrive, acanthocytosis, retinitis pigmentosa and cerebellar ataxia

20 CONGENITAL CHLORIDE-LOSING DIARRHEA Chronic diarrhea may occur because of the absence of a normal ileal mechanism for active absorption of chloride in exchange for bicarbonate. Chronic diarrhea may occur because of the absence of a normal ileal mechanism for active absorption of chloride in exchange for bicarbonate. Typically, this congenital problem presents in neonates and is characterized by watery diarrhea and metabolic alkalosis Typically, this congenital problem presents in neonates and is characterized by watery diarrhea and metabolic alkalosis

21 Clinical Evaluation A thorough history and a complete physical examination are important in the evaluation of chronic diarrhea A thorough history and a complete physical examination are important in the evaluation of chronic diarrhea

22 Laboratory Evaluation Certain basic laboratory studies can be helpful in many patients with chronic diarrhea. Certain basic laboratory studies can be helpful in many patients with chronic diarrhea. The stool should be analyzed for pH, reducing substances, occult blood, fatty acid crystals, fat globules, red blood cells, white blood cells, and ova and parasites. The stool should be analyzed for pH, reducing substances, occult blood, fatty acid crystals, fat globules, red blood cells, white blood cells, and ova and parasites. The stool culture may also yield important information. The stool culture may also yield important information. Other potentially useful tests include a complete blood count with differential and peripheral smear, an erythrocyte sedimentation rate, serum electrolyte concentrations, total protein and albumin levels, and a serum carotene level Other potentially useful tests include a complete blood count with differential and peripheral smear, an erythrocyte sedimentation rate, serum electrolyte concentrations, total protein and albumin levels, and a serum carotene level

23 Laboratory Evaluation The presence of reducing substances in a stool with a pH less than 6 suggests carbohydrate malabsorption. The presence of reducing substances in a stool with a pH less than 6 suggests carbohydrate malabsorption. A positive stool guaiac test indicates intestinal mucosal breakdown, which may be caused by gastrointestinal infection, protein intolerance or inflammatory bowel disease. A positive stool guaiac test indicates intestinal mucosal breakdown, which may be caused by gastrointestinal infection, protein intolerance or inflammatory bowel disease. The guaiac test may also be positive if the diet contains meat The guaiac test may also be positive if the diet contains meat

24 Laboratory Evaluation Fat globules in the stool may be normal in the first few months of life. Fat globules in the stool may be normal in the first few months of life. In an older child, the presence of fat globules suggests steatorrhea. Lubricants used during a digital examination to obtain a stool specimen may give a false-positive result for stool fat. In an older child, the presence of fat globules suggests steatorrhea. Lubricants used during a digital examination to obtain a stool specimen may give a false-positive result for stool fat. Refractile fatty-acid crystals suggest a mucosal problem such as celiac disease Refractile fatty-acid crystals suggest a mucosal problem such as celiac disease

25 Laboratory Evaluation A fresh stool sample should be examined microscopically. A fresh stool sample should be examined microscopically. The presence of a large number of neutrophils or red blood cells indicates bacterial gastroenteritis or inflammatory bowel disease. The presence of eosinophils suggests protein intolerance or parasitic infestation. The presence of a large number of neutrophils or red blood cells indicates bacterial gastroenteritis or inflammatory bowel disease. The presence of eosinophils suggests protein intolerance or parasitic infestation. Mobile parasites (G. lamblia or E. histolytica), cysts (protozoa or nematodes) and ova (nematodes and trematodes) may be seen. Mobile parasites (G. lamblia or E. histolytica), cysts (protozoa or nematodes) and ova (nematodes and trematodes) may be seen. Stool cultures for specific organisms should also be performed. Stool cultures for specific organisms should also be performed.

26 Laboratory Evaluation A complete blood count is often helpful. Neutrophilia and an increased number of band forms or toxic granulations are suggestive of bacterial infection. Neutropenia may be present in some immunodeficiency disorders, while eosinophilia may occur in parasitic infestation or protein intolerance. A complete blood count is often helpful. Neutrophilia and an increased number of band forms or toxic granulations are suggestive of bacterial infection. Neutropenia may be present in some immunodeficiency disorders, while eosinophilia may occur in parasitic infestation or protein intolerance. Hypochromic microcytic anemia suggests chronic gastrointestinal blood loss or malabsorption of iron. Hypochromic microcytic anemia suggests chronic gastrointestinal blood loss or malabsorption of iron. Acanthocytes in the peripheral smear suggest abetalipoproteinemia, while macrocytosis suggests vitamin [B.sub.12] or folate deficiency. An elevated erythrocyte sedimentation rate suggests active infection or inflammatory bowel disease. Acanthocytes in the peripheral smear suggest abetalipoproteinemia, while macrocytosis suggests vitamin [B.sub.12] or folate deficiency. An elevated erythrocyte sedimentation rate suggests active infection or inflammatory bowel disease.

27 Laboratory Evaluation In malnutrition, the serum albumin and globulin levels are decreased proportionally In contrast, protein-losing enteropathy is characterized by a greater loss of albumin and therefore a disproportionately depressed serum albumin level. In malnutrition, the serum albumin and globulin levels are decreased proportionally In contrast, protein-losing enteropathy is characterized by a greater loss of albumin and therefore a disproportionately depressed serum albumin level. The serum carotene level is an inexpensive and simple marker for fat malabsorption, assuming dietary carotene intake is adequate. The serum carotene level is an inexpensive and simple marker for fat malabsorption, assuming dietary carotene intake is adequate.

28 Laboratory Evaluation In watery diarrhea, calculation of the stool osmotic gap may help to differentiate diarrhea caused by osmotic agents such as sugars from diarrhea caused by abnormalities in the ionic transport of electrolytes. In watery diarrhea, calculation of the stool osmotic gap may help to differentiate diarrhea caused by osmotic agents such as sugars from diarrhea caused by abnormalities in the ionic transport of electrolytes. The stool osmotic gap is calculated by the following formula: stool osmolality - [2 x (stool sodium + stool potassium)]. The stool osmotic gap is calculated by the following formula: stool osmolality - [2 x (stool sodium + stool potassium)].

29 Laboratory Evaluation If the stool osmotic gap is increased, the diarrhea may be caused by an osmotically active agent, such as a sugar. If there is no osmolar gap, the diarrhea is more likely the result of impairment of the ionic transport of an electrolyte, which is common in infectious gastroenteritis, bile salt malabsorption, bacterial overgrowth, laxative abuse and short-bowel syndrome If the stool osmotic gap is increased, the diarrhea may be caused by an osmotically active agent, such as a sugar. If there is no osmolar gap, the diarrhea is more likely the result of impairment of the ionic transport of an electrolyte, which is common in infectious gastroenteritis, bile salt malabsorption, bacterial overgrowth, laxative abuse and short-bowel syndrome

30 Laboratory Evaluation Other tests that should be performed when indicated include serum immunoglobulin levels for immunodeficiency. Other tests that should be performed when indicated include serum immunoglobulin levels for immunodeficiency. hydrogen breath test for carbohydrate malabsorption, hydrogen breath test for carbohydrate malabsorption, 72-hour fecal fat test for fat malabsorption, 72-hour fecal fat test for fat malabsorption, sweat chloride test for cystic fibrosis, sweat chloride test for cystic fibrosis, upper gastrointestinal series with small-bowel follow- through for anatomic abnormalities and Crohn's disease, upper gastrointestinal series with small-bowel follow- through for anatomic abnormalities and Crohn's disease,

31 Laboratory Evaluation barium enema for Hirschsprung's disease and inflammatory bowel disease, barium enema for Hirschsprung's disease and inflammatory bowel disease, Sigmoidoscopy for inflammatory bowel disease and pseudomembranous colitis, Sigmoidoscopy for inflammatory bowel disease and pseudomembranous colitis, stool assay for giardiasis and a stool assay for giardiasis and a jejunal biopsy for celiac disease. jejunal biopsy for celiac disease.

32 Management Treat the cause. Treat the cause.

33 Congenital chloride diarrhea Congenital chloride diarrhea Definition. Definition. Congenital chloride diarrhea is a rare specific congenital defect of ileal chloride transport. The result is persistent osmotic diarrhea. Maternal polyhydramnios, abdominal distension, watery diarrhea and a high fecal chloride level > 90 mmol/l are the major features in the neonatal Congenital chloride diarrhea is a rare specific congenital defect of ileal chloride transport. The result is persistent osmotic diarrhea. Maternal polyhydramnios, abdominal distension, watery diarrhea and a high fecal chloride level > 90 mmol/l are the major features in the neonatal

34 Congenital chloride diarrhea History: History: Congenital chloride diarrhea was first described in Finland in 1945 and has most often been seen in this country and in Kuwait. Congenital chloride diarrhea was first described in Finland in 1945 and has most often been seen in this country and in Kuwait. Prevalence: Prevalence: Congenital chloride diarrhea is a rare disorder, reported mainly in Finland. It is a recessive inherited disorder of chloride transport in the distal ileum and colon. It is a common disorder in Kuwait with an incidence of 1/3200 due to a high prevalence of consanguinity marriages in that country. Congenital chloride diarrhea is a rare disorder, reported mainly in Finland. It is a recessive inherited disorder of chloride transport in the distal ileum and colon. It is a common disorder in Kuwait with an incidence of 1/3200 due to a high prevalence of consanguinity marriages in that country. Etiology: Etiology: Anomaly of chloride transport in the distal ileum and colon, and that is why there is a polyhydramnios and intestinal distention, during intra-uterine period Anomaly of chloride transport in the distal ileum and colon, and that is why there is a polyhydramnios and intestinal distention, during intra-uterine period

35 Pathogenesis: Congenital chloride diarrhea is autosomal recessive disorder of intestinal Cl/HCO3 exchange caused by mutations in the SLC26A3 gene and it is characterized by a persistent chloride diarrhea after birth. Congenital chloride diarrhea is autosomal recessive disorder of intestinal Cl/HCO3 exchange caused by mutations in the SLC26A3 gene and it is characterized by a persistent chloride diarrhea after birth. The underlying defect is in chloride reabsorption by cells of the intestinal mucosa, associated with impaired transport of bicarbonate. The result is water diarrhea in utero and polyhydramnios, commonly leading to premature delivery. The underlying defect is in chloride reabsorption by cells of the intestinal mucosa, associated with impaired transport of bicarbonate. The result is water diarrhea in utero and polyhydramnios, commonly leading to premature delivery. After birth, the infants become hypochloremic, hyponatremic, hypokalemic and alkalotic After birth, the infants become hypochloremic, hyponatremic, hypokalemic and alkalotic

36 Diagnosis Ultrasound findings: In spite of the classical features of the disease, 75% of the Kuwait cases are diagnosed beyond the neonatal period and all demonstrated chronic diarrhea and failure to thrive, with hypochloremia, hypokalemia and metabolic alkalosis. Nevertheless, the prenatal scan showed dilated intestinal loops with polyhydramnios, which suggested a congenital chloride diarrhea. The diagnosis is confirmed by a high fecal chloride level. Ultrasound findings: In spite of the classical features of the disease, 75% of the Kuwait cases are diagnosed beyond the neonatal period and all demonstrated chronic diarrhea and failure to thrive, with hypochloremia, hypokalemia and metabolic alkalosis. Nevertheless, the prenatal scan showed dilated intestinal loops with polyhydramnios, which suggested a congenital chloride diarrhea. The diagnosis is confirmed by a high fecal chloride level. Implications for Targeted Examinations: When we observed the typical aspect of regular dilated intestinal loops, with polyhydramnios, we should think about the congenital chloride diarrhea diagnosis. Implications for Targeted Examinations: When we observed the typical aspect of regular dilated intestinal loops, with polyhydramnios, we should think about the congenital chloride diarrhea diagnosis.

37 Differential Diagnosis: Ano-rectal atresia or imperforation: Ano-rectal atresia or imperforation: There is essentially dilatation of the colon. And polyhydramnios can be absent. There is essentially dilatation of the colon. And polyhydramnios can be absent. Colon aganglionosis or Hirschsprung disease: Colon aganglionosis or Hirschsprung disease: There is a total absence of ganglion cells in both submucosal (Meissner’s) and myenteric (Auerbach’s) plexuses of the intestine. When the disease involves the ileum and, less often, the jejunum, the disease is call Jirasek-Zuelzer-Wilson disease. There is a total absence of ganglion cells in both submucosal (Meissner’s) and myenteric (Auerbach’s) plexuses of the intestine. When the disease involves the ileum and, less often, the jejunum, the disease is call Jirasek-Zuelzer-Wilson disease. Intestinal occlusion: Intestinal occlusion: caused by anatomic anomalies (Meconial occlusion, intestinal stenosis, brides, etc.). Nevertheless, the dilated intestinal loops are not so regular and can be filled of meconium as in Mucoviscidosis. caused by anatomic anomalies (Meconial occlusion, intestinal stenosis, brides, etc.). Nevertheless, the dilated intestinal loops are not so regular and can be filled of meconium as in Mucoviscidosis.

38 Associated Anomalies: A fecal chloride concentration exceeding the sum of the sodium and potassium concentrations suggest the diagnosis. The condition may also be diagnosed antenatally. Ultrasound examinations may reveal a regular distension of intestinal loops after 25 weeks. Polyhydramnios with premature delivered is always present A fecal chloride concentration exceeding the sum of the sodium and potassium concentrations suggest the diagnosis. The condition may also be diagnosed antenatally. Ultrasound examinations may reveal a regular distension of intestinal loops after 25 weeks. Polyhydramnios with premature delivered is always present

39 Management: Treatment is usually symptomatic. Replacement therapy with NaCl and KCl has been shown to be effective, but the long-term prognosis remains unclear. Treatment is usually symptomatic. Replacement therapy with NaCl and KCl has been shown to be effective, but the long-term prognosis remains unclear. Nevertheless, early diagnosis and aggressive salt replacement therapy were associated with normal growth and development, in addition to significancy reduced mortality rates. Nevertheless, early diagnosis and aggressive salt replacement therapy were associated with normal growth and development, in addition to significancy reduced mortality rates. Enuresis, slight soiling and hospitalization for gastroenteritis are common, especially during early childhood. Enuresis, slight soiling and hospitalization for gastroenteritis are common, especially during early childhood. Complications can be end-stage renal disease, hyperuricemia, infertility, spermatoceles, intestinal inflammation, inguinal hernias and increased concentrations of sweat Cl. Complications can be end-stage renal disease, hyperuricemia, infertility, spermatoceles, intestinal inflammation, inguinal hernias and increased concentrations of sweat Cl.

40 Prognosis: Unfortunately, there is no treatment to the diarrhea of congenital chloride diarrhea, but children with this condition become toilet trained at a normal age. Their social adjustment can be impaired, but the prognosis is good if potassium as well as sodium and chloride are replaced regularly. Unfortunately, there is no treatment to the diarrhea of congenital chloride diarrhea, but children with this condition become toilet trained at a normal age. Their social adjustment can be impaired, but the prognosis is good if potassium as well as sodium and chloride are replaced regularly.

41 THANKS. THANKS.


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