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R.P

R.P. RP, 13 days old boy Complaint : feeding difficulties , vomitting , abdominal distention Complaints began at 10 th days of life, vomitting and feeding difficulties increased since last 3 days. R.P. History : Born to a 29 years old healthy mother , first birth

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R.P

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  1. R.P • RP, 13 daysold boy Complaint :feedingdifficulties , vomitting, abdominaldistention Complaintsbegan at 10 thdays of life, vomittingandfeedingdifficultiesincreased since last 3 days

  2. R.P History : Bornto a 29 yearsoldhealthymother, firstbirth 39 gestationalweeks, NSB, BW:3000 gr BL:51 cm. Breastfeeding. Familyhistory: Consanguineousmarriage

  3. R.P Physicalexam: weight :3 kg; length:51 cm Lethargic, newbornreflexesaredecreased, dry skin andmucosa, filiformpulse, HR:160 /min, TA:60/45 mmHg, abdominaldistention.

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

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

  6. R.P Physicalexam: weight :3 kg; length:51 cm Lethargic, newbornreflexesaredecreased, dry skin andmucosa, filiformpulse, HR:160 /min, TA:60/45 mmHg, abdominaldistention. axillary, areolarandscrotalhyperpigmentationmacropenis, testesarepalpable in scrotum

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

  8. Congenital adrenal hyperplasia, salt wasting crisis Serum samplesfor 17 hydroxyprogesterone IV fluid –electrolyteandhydrocortisonetreatmentshould be initiated

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

  10. Congenital adrenal hyperplasia (CAH) • Enzyme deficiencies that cause CAH: • 21 hydroxylase (CYP21A2) • 11 βhydroxylase (CYP11B1) • 3 β hydroxysteroid dehydrogenase • 17 α hydroxylase (CYP17) • “Steroidogenikcacuteregulatuary protein (StAR)”coding gene defectsleadtolipoid adrenal hyperplasia

  11. 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 high DHEAS N 17 OHP N DHEAS severe 21 hydroxylase def 3 β HSD def Aldosterone unresponsiveness Renal USG Low urinary system stenosis Hydrocortisone treat Gene mutation analysis

  12. R.P Na: 127 mEq/L ; K: 6.7 mEq/L 17-OH Progesterone:51 ng/ml (N:0.07-1.53) Renin: 719 pg/ml (N:5.2-33.4) DHEA-S: 1500 ng/dl (N:700-3000) TA: 70/50 mmHg Severe 21 hydroxylasedeficiency Congenital adrenal hyperplasia

  13. salt wasting crisis Treatment IV fluidtherapy 20 cc/kg IV serum saline Maintanence + deficits 5% dexwith serum saline IV hydrocortisone Hydrocortisone 100-75mg/m2/dayhalf of it IV bolus • Half of it in 24 hours, addedtothefluid • 2.day 75mg/m2/day oral • 3.day 50mg/m2/day • 4.day30 mg/m2/day

  14. Salt wasting crisis Treatment Hydrocortisone 10-15 mg/m2/day Fludrokortisone 0.1-0.2mg/day Salt 1-2 gr/day

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