A Rare Cause of Retroperitoneal Fibrosis in Adults: H Syndrome Presenting After 35 Years- A Case Report.

Abstract excerpt

INTRODUCTION: Retroperitoneal  fibrosis  (RPF)  is  a  rare  fibro- inflammatory  disorder  that  may  cause  urinary  tract  obstruction and renal failure. Although most RPF cases are IgG4-related, rare genetic conditions can also contribute to the disease. H syndrome, an  autosomal  recessive  disorder  caused  by  biallelic  SLC29A3 mutations, usually presents in childhood with cutaneous, endocrine, and...

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