Abstract

Nephronophthisis (NPHP) is an autosomal recessive cystic kidney disease and is the most frequent genetic cause of end-stage renal failure in the first three decades of life. Approximately 15% of NPHP patients have additional extrarenal symptoms affecting other organs (e.g. eyes, liver, bones and central nervous system).

Herein, we report a patient with homozygous deletions in the NPHP1 gene. He had extra-renal multiple anomalies. Initial symptoms of this patient was horizontal nistagmus, early partial whitening of hair, titubation of the head, polyuria, polydipsia, secondary enuresis. His cerebral MR was normal. At the age of 12 year, rising in serum creatinine was detected. His fundus examination showed any retinal pathology except pallor of optic disc. His renal ultrasound revealed increased echogenicity and cysts at the corticomedullary junction within kidneys. At the age of 14 year, he was put on chronic peritoneal dialysis treatment. Whitening of hair was increased with gradually.

Nephronophthisis and related syndromes syndrome can be diagnosed through genetic testing and clinical examinations. These children should be monitored regularly by paediatric nephrologists and ophthalmologists. Retinal pathologies should be followed close up for developing the signs of retinal changes.