Document Detail

Chronic kidney disease in an adult with propionic acidemia.
MedLine Citation:
PMID:  23756992     Owner:  NLM     Status:  PubMed-not-MEDLINE    
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.
H J Vernon; S Bagnasco; A Hamosh; C J Sperati
Publication Detail:
Type:  Journal Article     Date:  2013-06-12
Journal Detail:
Title:  JIMD reports     Volume:  12     ISSN:  2192-8304     ISO Abbreviation:  JIMD Rep     Publication Date:  2014  
Date Detail:
Created Date:  2014-01-22     Completed Date:  2014-01-22     Revised Date:  2014-01-27    
Medline Journal Info:
Nlm Unique ID:  101568557     Medline TA:  JIMD Rep     Country:  Germany    
Other Details:
Languages:  eng     Pagination:  5-10     Citation Subset:  -    
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