HUPRA syndrome
HUPRA syndrome is a rare genetic disorder characterized by hyperuricemia, pulmonary hypertension, renal failure in infancy, and alkalosis. It was first described in 2010 and is caused by mutations in the SLC22A12 gene, which encodes the uric acid transporter URAT1.
Symptoms and Signs[edit | edit source]
The symptoms of HUPRA syndrome typically present in infancy and include failure to thrive, dyspnea (difficulty breathing), and edema (swelling). Laboratory tests often reveal high levels of uric acid in the blood (hyperuricemia), low levels of bicarbonate in the blood (metabolic acidosis), and evidence of kidney damage.
Genetics[edit | edit source]
HUPRA syndrome is caused by mutations in the SLC22A12 gene, which is located on chromosome 11. This gene encodes the protein URAT1, which is responsible for reabsorbing uric acid from the urine back into the blood. Mutations in this gene disrupt the function of URAT1, leading to an overproduction of uric acid and the symptoms of HUPRA syndrome.
Diagnosis[edit | edit source]
The diagnosis of HUPRA syndrome is based on the clinical symptoms, laboratory findings, and genetic testing. Genetic testing can confirm the presence of mutations in the SLC22A12 gene.
Treatment[edit | edit source]
There is currently no cure for HUPRA syndrome. Treatment is supportive and aims to manage the symptoms. This may include medications to lower uric acid levels, oxygen therapy for pulmonary hypertension, and dialysis or kidney transplant for renal failure.
Prognosis[edit | edit source]
The prognosis for individuals with HUPRA syndrome is poor, with most individuals not surviving past infancy. However, early diagnosis and management of symptoms can improve quality of life and potentially extend lifespan.
See Also[edit | edit source]
NIH genetic and rare disease info[edit source]
HUPRA syndrome is a rare disease.
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