Infantile nephronophthisis complicated with hypertrophic cardiomyopathy: a case report

Abstract

  We report on a case of juvenile nephronophthisis (JN) who developed end-stage renal failure (ESRF) at the early infancy. The patient was a 3-month-old male infant who presented with poor feeding and dyspnea. He was diagnosed as having hepertrophic cardiomyopathy (HCM), and was treated with diuretics and cathecholamines. However, he developed ESRF following next 4 months. An open renal biopsy revealed compatible lesion to JN. Although it has been reported that overt renal impairment in most JN patients developed over 3 years of age, some cases showed a rapid progression to ESRF at the early infancy: so called infantile nephronophthisis (IN). To our knowledge, this is the 4 th report describing Japanese IN patient. Since he had been suffering from heart failure due to HCM prior to ESRF, HCM might be a complication of IN, and which has rarely been reported to date.