Molecular and Genetic Medicine

Acute Medical Unit, Blacktown Hospital, NSW-2148, Australia

Publications

• Case Report   
  Incidental Finding of Renal Impairment Leading to a Diagnosis of Nephronophthisis
  Author(s): Pinzon MB*, Chau K and Tarafdar S
  
  This case report describes the diagnosis of a familial juvenile nephronophthisis in a 17-year-old boy and emphasises on the increasing importance of genetic testing in patients with chronic kidney disease. A 17-yearold Iraqi refugee presented with abdominal pain and was incidentally found to have renal impairment (creatinine 279 μmol/L, urea 12.6 mmol/L, calculated eGFR for age 28 ml/min/1.73 m2). Urinalysis showed no proteinuria nor haematuria and renal ultrasound and computed tomography revealed small kidneys (left=8.4 cm and right=7.9 cm). The patient's brother had end-stage renal disease and commenced on peritoneal dialysis at the age of 19 with a presumed diagnosis of cystic renal hypodysplasia. Genetic testing revealed homozygous deletion of 2q13 that encompasses NPHP1 giving a diagnosis of juvenile nephronophthisis. Nephronophthisis i.. Read More»
  

  Abstract HTML PDF