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INHERITED RENAL DISORDERS. AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE Prevalence: 1:300 to 1:1000 90% of cases are inherited, 10% are sporadic Only1.

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Presentation on theme: "INHERITED RENAL DISORDERS. AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE Prevalence: 1:300 to 1:1000 90% of cases are inherited, 10% are sporadic Only1."— Presentation transcript:

1 INHERITED RENAL DISORDERS

2 AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE Prevalence: 1:300 to 1: % of cases are inherited, 10% are sporadic Only1 to 5% nephrons developed cysts Cysts are in medulla and cortex ADPKD causes symptoms in third or fourth decade 50% of patients developing ESRD by age 60

3 RENAL Symptoms of ADPKD Chronic flank pain Acute pain indicates: infection (pyelonephritis- pyocyst) urinary tract obstruction sudden hemorrhage into cysts Hematuria Impaired renal concentrating ability Nephrolitiasis in 15%to 20% Hypertension in 75% adults

4 Diagnostic Criteria- Ultrasound Age ………..2 cysts in one or both kidneys Age 30 to 59 …….2 cysts in each kidney Age >60 ………….4 cysts in each kidney

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10 EXTRARENAL SYMPTOMS CYSTS in: Liver Spleen Pancreas Ovaries Intracranial aneurism Colonic diverticular disease Mitral valve prolapse

11 Factors affecting progression to End Stage Renal Failure Hypertension Recurrent Haematuria UTI (in men) Massive Liver cystic Disease (mostly women) More than 3 pregnancies Age at symptomatic diagnosis Sickle Cell Trait

12 Autosomal recessive (infantile) polycystic kidney disease Infants, adolescents, young adults 1 in 20,000 affected 1 in 10,000 in Finland Up to 50% livebirths die within hours of birth Those that survive neonatal period – 50% alive at 10 yo

13 Most severe forms early in life Less severe forms present later –Always bilateral –Always congenital hepatic fibrosis AR – 1 in 4 chance – neither parent shows signs Ch. 6 identified in all forms

14 Clinical features Renal and liver pathology inversely related Oligohydramnios Potter’s facies Respiratory distress –pulmonary hypoplasia

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16 Histopathology Retain fetal lobulation Subcapsular cysts Radial cortical cysts – dilated tubules

17 Evaluation In utero US –Oligohydramnios, enlarged kidneys IVP –Medullary streaking (Sunburst pattern) – due to dilated collecting tubules –Dense nephrogram US – microcysts Liver biopsy if necessary Detailed family history Genetic counselling

18 MEDULARY SPONGE KIDNEY 0.5 to 1% of all IVP Male and female affected equally Dilatation in collecting ducts In 70% bilateral renal involvement It presents in third or fourth decade with: kidney stone infection hematuria Diagnosis with: IVP Renal function is normally preserved

19 Relatively common and benign, present at birth and not usually dx’d until age Characterized by widening and cystic dilatation of distal collecting tubules 70% bilateral, maybe affecting all papillae Infection and calculi occasionally seen as result of urinary stasis in the tubules

20 Pts present with: –Hematuria –Recurrent UTIs –Nephrolithiasis UA may show decreased urinary concentrating ability (due to tubule damage)

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22 Treatment –No known therapy –Increase fluids to prevent stone formation –Treatment directed toward complications Pyelonephritis Renal calculi Only small percentage of pts develop complications…overall prognosis is good

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24 Medullary Cystic Disease A rare, familial dz that may become symptomatic during adolescence Manifested by many small cysts scattered through the renal medulla Pts may present with pallor, polyuria, and lethargy May later develop HTN

25 Labs –UA shows inability to concentrate urine –CBC to confirm anemia –Chem panel to check phosphate, sodium, BUN, creatinine levels Rad –US and CT scan to dx

26 Tx –No current medical therapy to prevent progression to ESRD –Adequate water and salt replacement essential to replenish renal losses –Renal transplantation

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28 Liddle syndrome Rare autosomal dominant disorder Presented with: hypertension hypokalemia metabolic alkalosis Renin and aldostrone are suppressed Caused by activating mutations in amiloride-sensetive sodium channel

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30 Bartter’s syndrome Bartter’s syndrome is usually diagnosed in childhood, sometimes associated with growth and mental retardation. The defect is impaired NaCl reabsorption in the loop of Henle. Findings are similar to administration of a loop acting diuretic: –Salt loss leading to volume depletion and activation of the renin-angiotensin system –Increased urinary calcium

31 Bartter’s syndrome Presented with: normal blood pressure hypokalemia metabolic alkalosis Renin and aldostrone are activated Caused by mutation in frusomide sensitive channel Weakness, muscle cramp, polyuria

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33 3 or 4 types of Bartter’s have been identified: Defects in the luminal Na-K-Cl transporter Defects in the luminal potassium channel Defects in the basolateral chloride channel

34 Gitelman’s syndrome Like Bartter’s an autosomal recessive disorder, but not usually diagnosed early in life. Findings mimic administration of a thiazide diuretic: the defect is in the Na-Cl transporter. Patients may complain of polyuria, cramps. They do not have hypercalciuria, but typically have low serum magnesium levels.

35 Diagnosis is made by history as well as lab findings. Lab findings are indistinguishable from thiazide use: –Hypokalemia, hypomagnesemia, increased renin and aldosterone levels, decreased urinary calcium. –Genetic screening?

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37 Gitelman’s syndrome: treatment Potassium Magnesium Aldactone or amiloride ACEI’s NSAIDS of no benefit Continues to require very large doses of KCl, and is on amiloride. Magnesium levels have consistently been low or low normal.

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39 RENAL TUBULAR ACIDOSIS Disorder of renal acidification out of proportion to the reduction in GFR Hyperchloremic metabolic acidosis with normal serum anion gap There are multiple forms of RTA

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41 ALPORT SYNDROME The most common inherited nephritis X-linked Defect in the gene for the a5 chain of type IV collagen (major component of GBM) EM: fragmentation and lamellation in GBM Deafness in 30 to 50% Ocular lesion in 15 to 30%

42 Thin segment Thick segment Note the abnormal appearance of the glomerular basement membrane (GBM) typical of Alport's syndrome, including irregular contours, areas of thinning, and marked thickening and splitting with inclusion of electron-dense granules in electron-lucent areas

43 BLADDER CANCER Cancers occurred 90% in bladder, 8% in pelvic, 2% in ureter & urethra Male/female=4/1 Withes/ blacks=2/1 Risk factors are: smoking aniline dyes drugs radiation infection Symptoms: gross hematuria, irritative symptoms Diagnosis: urine cytology, CT scan, IVP

44 RENAL CELL CARCINOMA 90% Kidney cancer Male/Female=2/1 Incidence peaks between the ages of 50 to 70 Risk factors: smoking obesity acquired cyst in ESRD tuberous sclerosis VHL

45 SYMPTOMS: Hematuria abdominal pain abdominal mass fever Weight loss anemia varicocele


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