Living with Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome
A rare mitochondrial condition with early kidney problems, high blood pressure in the lungs, and developmental delay.
Understanding Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome
It starts early with worsening kidney problems, including high uric acid, low sodium and magnesium, and increased urine output. Other effects include high pressure in the lung blood vessels, slow weight gain, developmental delay, and low muscle tone. Some people have premature birth, diabetes, or low blood cell counts. It is seen in newborns and infants.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Chronic kidney disease
- High pressure in lung blood vessels
- Slow weight gain and feeding difficulties
- Global developmental delay
- Low muscle tone (hypotonia)
- Diabetes mellitus
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include genetic specialists, kidney specialists and lung and breathing specialists.
- 3Consider genetic testing
Changes in SARS2 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
United Mitochondrial Disease Foundation and MitoAction may keep lists of experts for this condition.
Care & treatment
- Care team
- Genetic specialists (geneticists); Kidney specialists (nephrologists); Lung and breathing specialists (pulmonologists)
- Expert care
- Expert lists: United Mitochondrial Disease Foundation, MitoAction
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with CureARS and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the SARS2 gene cause this condition. GARD lists autosomal recessive and mitochondrial inheritance.
Also known as: hupra syndrome; hupras; hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome; hyperuricemia, pulmonary hypertension, renal failure, and alkalosis; hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome
Patient organizations
- CureARSHyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome · United States
- Phaware Global AssociationHyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome · United States
- National Kidney FoundationKidney diseases · United States
- Renal Support NetworkKidney diseases · United States
- United Mitochondrial Disease FoundationMitochondrial diseases · United States
- MitoActionMitochondrial diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome.
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