Congenital adrenal hyperplasia: a rare cause of renal failure and a successful renal transplantation

Clin Nephrol. 2012 Aug;78(2):145-8. doi: 10.5414/cn107032.

Abstract

Congenital adrenal hyperplasia belongs to a group of autosomal recessive disorders affecting steroid biosynthesis; a rare disease with a prevalence of 1 case per 16,000 population. A 30-year-old phenotypically male patient had been diagnosed with 11-β hydroxylase deficiency at the age of 16; presenting with ambiguous genitalia, growth retardation, presence of menstrual cycles, severe hypertension, hypokalemia and renal dysfunction. He developed endstage renal disease due to hypertension and was treated with hemodialysis for 3 y. After careful evaluation, he was approved to undergo renal transplantation. The patient has now finished 6th month after transplantation and is currently under follow-up at our outpatient clinic, having no problems related to the transplant. While early treatment to prevent hypertension is mandatory in patients with congenital adrenal hyperplasia, once renal failure occurs, renal transplantation may the best choice of treatment. In this study, we describe the first report of a successful renal transplantation in an adrenal hyperplasia.

Publication types

  • Case Reports

MeSH terms

  • Adrenal Hyperplasia, Congenital / complications*
  • Adult
  • Humans
  • Kidney Failure, Chronic / etiology*
  • Kidney Failure, Chronic / surgery*
  • Kidney Transplantation*
  • Male