[MIM 613 845]

Acronym for HyperUricemia Pulmonary hypertension Renal failure and Alkalosis

Extremely rare. Mitochondrial cytopathy due to a mutation in the nuclear  SARS2 gene (19q13.2), which codes for a mitochondrial tRNA synthetase. Autosomal recessive transmission.

Progressive renal failure with hyperuricemia appears early in childhood: it causes a metabolic alkalosis. Development delay with hypotonia and pulmonary hypertension are also present.

Anesthetic implications: 

see mitochondrial cytopathies; check renal function, ionogram, and hemoglobin, cardiac ultrasound

References : 

Updated: March 2019