A Case with Nephrophthisis Complex or a Variant of the Disease

Dr. Ayae Öner, Gata Lojmanlari, Sağlam Apt., 23/11, Etlik, Ankara (Turkey) Dear Sir, Juvenile nephrophthisis (JN) is a chronic, hereditary, tubulointerstitial disease characterized by polyuria, polydipsia, decreased urinary concentration ability, anemia, growth retardation and progressive renal failure [1]. The age at the first clinical evaluation for the manifestations of JN is approximately 10 years, varying from 3 to 17 years, and the patients develop end stage renal failure with 1-10 years after the first presentation [1, 2]. We present a 5-year-old boy with JN who developed the symptoms of JN and renal failure at early infancy together with manifestations of nephrogenic diabetes insipidus. The patient had polyuria since his birth and was admitted to the hospital with complaints of fever and irritability for 2 days. When he was 20 days old, he was treated in another hospital for 50 days as inpatient with the diagnosis of cystic renal disease and sepsis, and he received several antibiotics including vancomycin, cefotaxime, neutro-mycin and ampicillin. He had a history of asphyxia at birth. He had parental first-degree consanguinity, and his aunt received hemodialysis because of end stage renal failure of unknown origin. His physical examination revealed that his respiration was in acidotic pattern, and he had hepatomegaly of 3 cm below the last costal margin midcla-vicularly. The laboratory examination showed iron deficiency anemia (hemoglobin: 7.4 g/dl), urinary pH: 6.5, density: 1,010, protein: + (700 mg/m2/day), glucose: – and normal sediment. Blood urea nitrogen (BUN) was 21 mg/dl (7.5 mmol/l), creatinine: 1.2 mg/dl (106.1 μmol/l), total protein: 7.5 g/dl, albumin: 5 g/dl, sodium: 152 mEq/1, potassium: 4.9 mEq/1, calcium: 9.5 mg/dl (2.4 mmol/l), phosphorus: 6 mg/dl (1.9mmol/l). Arterial blood gases showed metabolic acidosis with pH: 7.1, pC02: 24 mm/Hg (3.2 kPa) and HCO3: 12.9mmol/l. His creatinine clearance was 25 ml/min/1.73 m2. Using abdominal ultrasonography, hepatic fibrosis and hy-perechogenic (grade 3) normal-sized kidneys with several cortical and medullary cysts showing the loss of corticomedullary differentiation were detected (fig. 1). CT of the abdomen showed multiple hypodense areas in medullar and cortical regions (fig. 2) and the patient was diagnosed to have a cystic kidney disease and treated for acidosis. However, serum sodium levels were subsequently elevated and on the 4th day following of admission it was 184 mEq/1, serum potassium: 8.7 mEq/1, BUN: 52 mg/dl (18.6 mmol/l), creatinine: 1.7 mg/dl (150.3 μmol/l), osmolality: 384 mosm/kg while urinary sodium was 69 mEq/1, K: 8.4 mEq/1 and osmolality 245 mosm/kg at the same time. Serum vasopressin level was 35 pg/dl (normal < 8 pg/dl). Thus the patient was diagnosed to have nephrogenic diabetes insipidus. Development of nephrogenic diabetes insipidus together with the