期刊论文详细信息
Nephrology @ Point of Care | |
Late Diagnosis of Primary Hyperoxaluria by Crystals in the Bone Marrow!: | |
MohammedHameed1  | |
关键词: PH1; Primary hyperoxaluria type 1; Erythropoietin Hormone Resistance; End stage Renal Disease; | |
DOI : 10.5301/napoc.2015.14679 | |
学科分类:医学(综合) | |
来源: Sage Journals | |
【 摘 要 】
Primary hyperoxaluria type 1 (PH1) is a rare, inherited, autosomal recessive, metabolic disorder caused by a deficiency of peroxisomal alanine-glyoxylate aminotransferase (AGT). We describe here a case of a 57-year-old man with End Stage Renal Disease, where the late age of presentation of PH T1 due to marked heterogeneity of disease expression caused a delay in diagnosis, and we discuss the causes of the poor outcome typical of this condition.
【 授权许可】
CC BY
【 预 览 】
Files | Size | Format | View |
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RO201904023885940ZK.pdf | 1152KB | download |