HUPRA syndrome

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.[1] One of the two infants' parents were related.[1] It was later described in a third infant from the same village, whose parents were not related.[1]

HUPRA syndrome
Other namesHyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
HUPRA syndrome is inherited via autosomal recessive manner
FrequencyLess than one in a million

The acronym stands for Hyperuricemia, Pulmonary hypertension, Renal failure in infancy and Alkalosis. And it's due to mutations in the mitochondrial SARS enzyme.[1] It is an autosomal recessive disease, that has a prevalence of less than one in a million.[2] One in fifteen of the village's inhabitants were found to carry the genetic mutation.[1]

Presentation

Those affected were born prematurely, and suffered from feeding difficulties and developmental delays.[1] They presented with progressive kidney disease and primary pulmonary hypertension, and ultimately died.[1]

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).[3][4]

Diagnosis

Treatment

Currently there is no curative treatment.

See also

References
  1. Belostotsky, Ruth; Ben-Shalom, Efrat; Rinat, Choni; Becker-Cohen, Rachel; Feinstein, Sofia; Zeligson, Sharon; Segel, Reeval; Elpeleg, Orly; Nassar, Suheir; Frishberg, Yaacov (February 2011). "Mutations in the Mitochondrial Seryl-tRNA Synthetase Cause Hyperuricemia, Pulmonary Hypertension, Renal Failure in Infancy and Alkalosis, HUPRA Syndrome". The American Journal of Human Genetics. Am J Hum Genet. 88 (2): 193–200. doi:10.1016/j.ajhg.2010.12.010. PMC 3035710. PMID 21255763.
  2. "Orphanet: Hyperuricemia pulmonary hypertension renal failure alkalosis syndrome". www.orpha.net. Retrieved 20 January 2017.
  3. "OMIM Entry - # 613845 - HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS SYNDROME; HUPRAS". www.omim.org. Retrieved 20 January 2017.
  4. "OMIM Entry - * 612804 - SERYL-tRNA SYNTHETASE 2; SARS2". www.omim.org. Retrieved 20 January 2017.
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