Juvenile nephronophthisis associated with skeletal abnormalities and hepatic fibrosis.

Case report The patient was the second of 3 boys born to unrelated parents at 39 weeks' gestation; birthweight 3-01 kg. He failed to thrive from infancy. His first hospital admission was at the age of 5j years with a 3-week history of anorexia, vomiting, abdominal pain, sweating, and 'heavy breathing'. Examination showed a small child (height 98 cm, weight 13-3 kg-both below 3rd centile) with pectus carinatum. He had signs of both dehydration and pulmonary oedema associated with cardiomegaly and hepatomegaly. Blood pressure after rehydration and treatment of heart failure was 220/120 mmHg. The retinae were normal. The results of investigations showed Hb 6-6 g/dl; white cell count 5 2 x 109/1 (5200/mm3); serum urea 128 mg/100 ml (21-2 mmol/l), sodium 140 mmol/l, (140 mEq/l), potassium 4-7 mmol/l (4 7 mEq/l), chloride 115 mmol/l (115 mEq/l), creatinine 3 mg/100 ml (265 ,umol/l), calcium 8-3 mg/100 ml (2-08 mmol/l), phosphorus 7 7 mg/100 ml (2 5 mmol/l), alkaline phosphatase 15 KA units, total protein 55 g/l, albumin 30 g/l, total bilirubin 0 4 mg/100 ml (6-8 umol/l), SGOT 17 IU/1, normal levels for the C3 and C4 components of complement, glomerular filtration rate (as determined by 51chromium EDTA slope clearance) 11-2 ml/min per 1 73 m2. His urine contained a few granular casts but no cells, and urinary protein excretion was 92 mg/h per ma (normal, <4 mg/h per in'). Intravenous pyelography showed normal sized kidneys with poor function, and also revealed metaphyseal chondrodysplasia of the femoral necks (Fig. 1). This prompted a skeletal survey which showed cone shaped epiphyses in the phalanges of both the hands and the feet (Fig. 2). (The radiological features are described in detail elsewhere (Chakera, 1975). Renal biopsy showed appearances consistent with juvenile nephronophthisis (see below). The hypertension proved difficult to control and intermittent peritoneal dialysis became necessary for increasing azotaemia and hyperkalaemia. The child's FIG. 1.-Metaphyseal chondrodysplasia of femoral neck. (By permission of Editor of British Journal of Radiology.)