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. 2014:12:5-10.
doi: 10.1007/8904_2013_237. Epub 2013 Jun 12.

Chronic kidney disease in an adult with propionic acidemia

H J Vernon  1 , S Bagnasco, A Hamosh, C J Sperati
Affiliations

Chronic kidney disease in an adult with propionic acidemia

H J Vernon et al. JIMD Rep. 2014.

Abstract

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.

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Figures

Fig. 1
Fig. 1
(a) Histologically normal glomerulus by light microscopy (400x); (b) sparse IgA and (c) IgG mesangial deposits by immunofluorescence; (d) sparse electron-dense mesangial deposits (arrows) on electron microscopy. Glomerular basement membrane (*) and Bowman’s space (BS)
Fig. 2
Fig. 2
(a and b) Enlarged abnormal mitochondria in tubular cells with disruption of cristae (indicated by arrows)
See this image and copyright information in PMC

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