Medical MCQ - A–13–year old boy is referred for evaluation of nocturnal enuresis and short stature. His blood pressure is normal. The hemoglobin level is 8g/dl.urea 112 mg/dl, creatinine 6 mg/dl, sodium 119 mEq/ dl, potassium 4 mEq/l, calcium 7 mg/dl, phosphate 6 mg/dl and alkaline phosphatase 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

A–13–year old boy is referred for evaluation of nocturnal enuresis and short stature. His blood pressure is normal. The hemoglobin level is 8g/dl.urea 112 mg/dl, creatinine 6 mg/dl, sodium 119 mEq/ dl, potassium 4 mEq/l, calcium 7 mg/dl, phosphate 6 mg/dl and alkaline phosphatase 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 –

Alport's syndrome

Medullary sponge kidney.

Chronic glomerulonephritis.

Nephronophthisis

Question Category:

Pediatrics

Correct Answer:

Nephronophthisis

Description:

Features seen in this 13 yr. old boy Short Stature Nocturnal enuresis Normal B.P. Reduced hemoglobin Hyponatremia (N level in 136-145 meq/dl) Hypocalcemia (N level is 9-10.5 mg/dl) Normal potassium level (N is 3.5 to 5 meq/dl) B/L small kidneys Increased blood urea (N is 10 - 40 mg/dl) Increased alkaline phosphates (N is upto 130 IU) Increased serum creatinine (N is < 1.5 m g/dl) This pt. gives a classical presentation of nephronophthisis, About other options Alport syndromeIt can be easily ruled out as it presents with Microscopic hematuria (first symptom) Proteinuria Sensorineural hearing loss b/l 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 fourth decade.Chronic glomerulonephritispts of CGN usually have heavy proteinuria, frank or occult hematuria and hypertension.

Previous MCQ

Next MCQ