hyperuricemia pulmonary hypertension renal failure & alkalosis (HUPRA)

Pathology

• multisystem disorder

Genetics

• associated with defects in SARS2 are the cause of hyperuricemia pulmonary hypertension renal failure & alkalosis (HUPRA) [MIM:613845]

Clinical manifestations

• onset in infancy
• progressive renal failure
• pulmonary hypertension
• hypotonia
• delayed development
• affected individuals are born prematurely

Laboratory

• basic metabolic panel: electrolyte imbalances
• arterial blood gas: metabolic alkalosis

More general terms

• genetic syndrome (multisystem disorder)

Database

• OMIM: https://mirror.omim.org/entry/613845