TY - JOUR
T1 - Primary hyperoxaluria type 1 with systemic calcium oxalate deposition
T2 - Case report and literature review
AU - Falk, Nadja
AU - Castillo, Brian
AU - Gupta, Aditya
AU - McKelvy, Brandy
AU - Bhattacharjee, Meenakshi
AU - Papasozomenos, Sozos
N1 - Copyright:
Copyright 2013 Elsevier B.V., All rights reserved.
PY - 2013
Y1 - 2013
N2 - We present an adult autopsy case of primary hyperoxaluria type 1. Diagnosis was established with skin biopsy and subsequent genetic analysis one month prior to death. At autopsy, calcium oxalate crystals refringent to polarized light were found systemically. Interestingly, however, calcium oxalate crystals were not identified in the bone. Additionally, we have included a review of the literature for previous autopsy cases, presentations, diagnosis, complications, and treatment of this rare genetic systemic process
AB - We present an adult autopsy case of primary hyperoxaluria type 1. Diagnosis was established with skin biopsy and subsequent genetic analysis one month prior to death. At autopsy, calcium oxalate crystals refringent to polarized light were found systemically. Interestingly, however, calcium oxalate crystals were not identified in the bone. Additionally, we have included a review of the literature for previous autopsy cases, presentations, diagnosis, complications, and treatment of this rare genetic systemic process
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M3 - Article
C2 - 23884230
AN - SCOPUS:84880991478
SN - 0091-7370
VL - 43
SP - 328
EP - 331
JO - Annals of clinical and laboratory science
JF - Annals of clinical and laboratory science
IS - 3
ER -