Gungor Ozkan, Kircelli Fatih, Carrero Juan Jesus, Hur Ender, Dheir Hamad, Simsir Adnan, Okmen Firat, Toz Huseyin, Hoscoskun Cuneyt
Division of Nephrology, Ege University School of Medicine, Izmir, Turkey.
Clin Nephrol. 2012 Aug;78(2):145-8. doi: 10.5414/cn107032.
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.
先天性肾上腺皮质增生症属于一组影响类固醇生物合成的常染色体隐性疾病;这是一种罕见疾病,发病率为每16000人中有1例。一名30岁表型为男性的患者在16岁时被诊断为11-β羟化酶缺乏症;表现为生殖器模糊、生长发育迟缓、有月经周期、严重高血压、低钾血症和肾功能障碍。他因高血压发展为终末期肾病,并接受了3年的血液透析治疗。经过仔细评估,他被批准接受肾移植。该患者目前已完成移植后6个月,目前在我们的门诊接受随访,没有与移植相关的问题。虽然对于先天性肾上腺皮质增生症患者,早期预防高血压的治疗是必要的,但一旦发生肾衰竭,肾移植可能是最佳的治疗选择。在本研究中,我们描述了首例先天性肾上腺皮质增生症患者成功肾移植的报告。