title: Primary hyperoxaluria type 1 with systemic calcium oxalate deposition: case report and literature review.
abstract: 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.
authors.affiliation: Department of Pathology and Laboratory Medicine, University of Texas Health Science Center at Houston, 6431 Fannin Street, MSB 2.262, Houston TX, United States. nadjakfalk@gmail.com
authors.forename: Nadja
authors.initials: N
authors.lastname: Falk
authors.forename: Brian
authors.initials: B
authors.lastname: Castillo
authors.forename: Aditya
authors.initials: A
authors.lastname: Gupta
authors.forename: Brandy
authors.initials: B
authors.lastname: McKelvy
authors.forename: Meenakshi
authors.initials: M
authors.lastname: Bhattacharjee
authors.forename: Sozos
authors.initials: S
authors.lastname: Papasozomenos
mesh_terms: D000328:Adult; D001344:Autopsy; D001706:Biopsy; D002114:Calcinosis / Q000209:etiology / Q000473:pathology*; D002129:Calcium Oxalate; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D006960:Hyperoxaluria, Primary / Q000175:diagnosis* / Q000209:etiology; D007676:Kidney Failure, Chronic / Q000150:complications* / Q000628:therapy; D016030:Kidney Transplantation / Q000009:adverse effects*; D012867:Skin / Q000473:pathology*
chemical_list: D002129:Calcium Oxalate