Vernon H J, Bagnasco S, Hamosh A, Sperati C J
McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, 733 North Broadway, BRB 529, Baltimore, MD, 21205, USA,
JIMD Rep. 2014;12:5-10. doi: 10.1007/8904_2013_237. Epub 2013 Jun 12.
We report an adult male with classic propionic acidemia (PA) who developed chronic kidney disease in the third decade of his life. This diagnosis was recognized by an increasing serum creatinine and confirmed by reduced glomerular filtration on a (99m)Tc-diethylenetriamine pentaacetate (DTPA) scan. Histopathology of the kidney showed moderate glomerulo- and tubulointerstitial fibrosis with very segmental mesangial IgA deposits. This is the second reported case of kidney disease in an individual with propionic acidemia possibly indicating that chronic kidney disease may be a late-stage complication of propionic acidemia. Additionally, this is the first description of the histopathology of kidney disease in an individual with propionic acidemia. As more cases emerge, the clinical course and spectrum of renal pathology in this disorder will be better defined.
我们报告了一名患有典型丙酸血症（PA）的成年男性，他在30岁时患上了慢性肾脏病。血清肌酐升高提示了这一诊断，并通过（99m）锝-二乙三胺五乙酸（DTPA）扫描显示肾小球滤过率降低得以证实。肾脏组织病理学显示中度肾小球和肾小管间质纤维化，伴有非常局灶性的系膜IgA沉积。这是第二例报告的丙酸血症患者出现肾脏疾病的病例，可能表明慢性肾脏病可能是丙酸血症的晚期并发症。此外，这是首次对丙酸血症患者肾脏疾病的组织病理学进行描述。随着更多病例的出现，这种疾病的临床病程和肾脏病理学范围将得到更好的界定。
