Medicine:HUPRA syndrome
| HUPRA syndrome | |
|---|---|
| Other names | Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome |
 | |
| HUPRA syndrome is inherited via autosomal recessive manner | |
| Frequency | Less than one in a million |
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]
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.[citation needed]
See also
- Mitochondrial disease
- Mitochondrial DNA
- SARS (gene)
References
- ↑ 1.0 1.1 1.2 1.3 1.4 1.5 1.6 Belostotsky, Ruth; Ben-Shalom, Efrat; Rinat, Choni; Becker-Cohen, Rachel; Feinstein, Sofia; Zeligson, Sharon; Segel, Reeval; Elpeleg, Orly et al. (February 2011). "Mutations in the Mitochondrial Seryl-tRNA Synthetase Cause Hyperuricemia, Pulmonary Hypertension, Renal Failure in Infancy and Alkalosis, HUPRA Syndrome" (in en). The American Journal of Human Genetics (Am J Hum Genet) 88 (2): 193–200. doi:10.1016/j.ajhg.2010.12.010. PMID 21255763.
- ↑ "Orphanet: Hyperuricemia pulmonary hypertension renal failure alkalosis syndrome" (in en). http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363694.
- ↑ "OMIM Entry - # 613845 - HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS SYNDROME; HUPRAS" (in en-us). https://www.omim.org/entry/613845.
- ↑ "OMIM Entry - * 612804 - SERYL-tRNA SYNTHETASE 2; SARS2" (in en-us). https://www.omim.org/entry/612804.
External links
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