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HUPRA syndrome

Abstract

HUPRA syndrome is a rare syndrome that was first described in 2010 in two infants of Palestinian origin from the same village in the Jerusalem area. One of the two infants' parents were related. It was later described in a third infant from the same village, whose parents were not related.

The acronym stands for Hyperuricemia, Pulmonary hypertension, Renal failure in infancy and Alkalosis. And it's due to mutations in the mitochondrial SARS enzyme. It's an autosomal recessive disease, that has a prevalence of less than one in a million. One in fifteen of the village's inhabitants were found to carry the genetic mutation.

Presentation

Those affected were born prematurely, and suffered from feeding difficulties and developmental delays. They presented with progressive kidney disease and primary pulmonary hypertension, and ultimately died.

Genetics

The cause of this condition is a mutation in the SARS2 gene ("seryl-tRNA synthetase" enzyme) which has to do with protein translation; furthermore, the HUPRA syndrome is autosomal recessive in its inheritance pattern. It is located on chromosome 19 (19q13.2).