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R.P t RP, 13 days old boy Complaint : Complaint : feeding difficulties, vomitting, abdominal distention Complaints began at 10 th days of life, vomitting.

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Presentation on theme: "R.P t RP, 13 days old boy Complaint : Complaint : feeding difficulties, vomitting, abdominal distention Complaints began at 10 th days of life, vomitting."— Presentation transcript:

1 R.P t RP, 13 days old boy Complaint : Complaint : feeding difficulties, vomitting, abdominal distention Complaints began at 10 th days of life, vomitting and feeding difficulties increased since last 3 days

2 R.P History : Born to a 29 years old healthy mother, first birth 39 gestational weeks, NSB, BW:3000 gr BL:51 cm. Breast feeding. Family history: Consanguineous marriage

3 R.P Physical exam: weight :3 kg; length:51 cm Lethargic, newborn reflexes are decreased, dry skin and mucosa, filiform pulse, HR:160 /min, TA:60/45 mmHg, abdominal distention.

4 Lab: Na: 127 mEq/L K: 6.7 mEq/L

5 Feeding difficulties, vomitting, letargy, dehydration, hyponatremia, hypokalemia t Sepsis t Gastroenteritis t Pylor stenosis t Cow milk (formula) allergy t Lower urinerary system stenosis t Salt loosing Hyponatremai but not hyperkalemia Just taking breast milk and severe clinical findings hypokalemia Hyponatremia and hyperkalemia

6 R.P axillary, areolar and scrotal hyperpigmentation macropenis, testes are palpable in scrotum Physical exam: weight :3 kg; length:51 cm Lethargic, newborn reflexes are decreased, dry skin and mucosa, filiform pulse, HR:160 /min, TA:60/45 mmHg, abdominal distention.

7 t Feeding difficulties, vomitting, letargy t Shock symptoms (tashicardia, filiform pulse, low arterial tension) t Hyperkalemia, hyponatremia t Hyperpigmentation t Gender development disorders (girls), Macropenis (boys) congenital adrenal hyperplasia salt wasting crisis

8 Congenital adrenal hyperplasia, salt wasting crisis Serum samples for 17 hydroxyprogesterone IV fluid –electrolyte and hydrocortisone treatment should be initiated

9 Congenital adrenal hyperplasia (CAH) t Deficiency of the enzymes needed for the synthesis of cortisol and aldosterone causes CAH t Ot res

10 t Enzyme deficiencies that cause CAH: –21 hydroxylase (CYP21A2) –11 β hydroxylase (CYP11B1) – 3 β hydroxysteroid dehydrogenase –17 α hydroxylase (CYP17) “Steroidogenikc acute regulatuary protein (StAR)” t “Steroidogenikc acute regulatuary protein (StAR)” coding gene defects lead to lipoid adrenal hyperplasia Congenital adrenal hyperplasia (CAH)

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12 YENİDOĞAN DÖNEMİNDE KONJENİTAL ADRENAL HİPERPLAZİ Girl with GDA and dehydration findings Boy with DH vomitting Low Na, high K High 17 OHP High renin N 17 OHP N DHEAS N 17 OHP high DHEAS severe 21 hydroxylase def Renal USG Low urinary system stenosis 3 β HSD def Hydrocortisone treat Gene mutation analysis Aldosterone unresponsiveness

13 R.P Na: 127 mEq/L ; K: 6.7 mEq/L 17-OH Progesterone:51 ng/ml (N: ) Renin: 719 pg/ml (N: ) DHEA-S: 1500 ng/dl (N: ) TA: 70/50 mmHg Severe 21 hydroxylase deficiency Congenital adrenal hyperplasia

14 salt wasting crisis Treatment IV fluid therapy 20 cc/kg IV serum saline Maintanence + deficits  5% dex with serum saline IV hydrocortisone Hydrocortisone mg/m2/day half of it IV bolus –Half of it in 24 hours, added to the fluid –2.day 75mg/m2/day oral –3.day 50mg/m2/day –4.day30 mg/m2/day

15 Salt wasting crisis Treatment Hydrocortisone mg/m2/day Fludrokortisone mg/day Salt 1-2 gr/day


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