A-13-year old boy is referred for evaluation of nocturnal enuresis and sho stature. His blood pressure is normal. The hemoglobin level is 8g/dl. urea 112 mg/d1, creatinine 6 mg/d1, sodium 119 mEq/ dl, potassium 4 mEq/1, calcium 7 mg/d1, phosphate 6 mg/d1 and alkaline phophatase 300 U/I. Urinalysis shows trace proteinuria with hyaline casts; no red and white cells are seen. Ultrasound shows bilateral small kidneys and the micturating cystourethrogram is normal. The most likely diagnosis is ?
Correct Answer: Nephronophthisis
Description: Ans. is 'd' i.e., Nephronopthisis o Features seen in this 13 yr. old boy Sho stature Hyponatremia (N level in 136-145 meq/dl) Nocturnal enuresis Hypocalcemia (N level is 9-10.5 mg/dl) Normal B.P. Normal potassium level (N is 3.5 to 5 meq/dl) Reduced haemoglobin B/L small kidneys Increased blood urea (N is 10 -- 40 mg/dl) Increased alkaline phosphatase (N is upto 1301U) Increased serum creatinine (N is < 1.5 m g/dl) o This pt. gives classical presentation of nephronopthosis, (See above explanation) About other options Alpos syndrome It can be easily ruled out as it presents with Microscopic hematuria (first symptom) Sensorineural hearing loss Proteinuria b/1 anterior lenticonus Medullary sponge kidney Easily ruled out as the kidneys are normal or increased is size in MSK and also the age of presentation is third or fouh decade. Chronic glomerulonephritis pts of CGN usually have heavy proteinuria, frank or occult hematuria and hypeension.
Category:
Pediatrics
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