Late Diagnosis of Primary Hyperoxaluria by Crystals in the Bone Marrow!:

Nephrology @ Point of Care

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