HUPRA syndrome

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Obesity, Sleep & Internal medicine
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HUPRA syndrome
Synonyms	Hyperuricemia, pulmonary hypertension, renal failure in infancy, and alkalosis syndrome
Pronounce	N/A
Specialty	Medical genetics
Symptoms	Hyperuricemia, pulmonary hypertension, renal failure, metabolic alkalosis
Complications	N/A
Onset	Infancy
Duration	Lifelong
Types	N/A
Causes	Mutations in the SARS2 gene
Risks	Family history of the condition
Diagnosis	Genetic testing, clinical evaluation
Differential diagnosis	N/A
Prevention	N/A
Treatment	Supportive care, management of symptoms
Medication	N/A
Prognosis	Poor, often fatal in early childhood
Frequency	Extremely rare
Deaths	N/A

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

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

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

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

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

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

• Hyperuricemia
• Pulmonary hypertension
• Renal failure
• Alkalosis
• SLC22A12
• Uric acid
• Chromosome 11

NIH genetic and rare disease info

• NIH info on HUPRA syndrome

HUPRA syndrome is a rare disease.

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