Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
Synonyms: HUPRA syndrome
Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome is a rare genetic mitochondrial disease characterized by early-onset progressive renal failure manifesting with hyperuricemia hyponatremia hypomagnesemia hypochloremic metabolic alkalosis elevated BUN and polyuria associated with systemic manifestations which include pulmonary hypertension failure to thrive global developmental delay hypotonia and ventricular hypertrophy. Additional features include prematurity elevated serum lactate diabetes mellitus and in some pancytopenia.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version October 2023.
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Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome?
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Cardiac Community Advocacy and Support Initative
To advocate for, raise awareness about, and support people living with cardiovascular diseases, with a focus on the rare disease pulmonary hypertension.
NGO Association of patients with Pulmonary Hypertension
Mission - to protect the rights of people with rare diseases - pulmonary hypertension, to defend their right to treatment, timely diagnosis and social protection.
Hellenic Community for Pulmonary Hypertension
The " Hellenic Community for Pulmonary Hypertension " is a non-profit organisation, of a voluntary nature, which began its work at the end of 2012 by the sufferers themselves and their caregivers, with the main objective of recognising, consolidating and updating all issues surrounding this unknown disease to the general public.Representation of the PH sufferers of the Greek & Cypriot territory.
Pulmonary Hypertension Association of Canada
To empower the Canadian pulmonary hypertension community through support, education, advocacy, awareness, and research.
Help Hope Live
Help Hope Live assists individuals living with catastrophic injuries and illnesses to fundraise toward their medical expenses and related costs.
Fund research for 19 mt-aars conditions and provide patient support.
Cure Mito Foundation
Our mission is to empower families to come together with a common goal of finding treatments, and ultimately a cure, for this devastating disease.
United Mitochondrial Disease Foundation (UMDF)
Promoting research and education for the diagnosis, treatment and cure of mitochondrial disorders and to provide support to affected individuals and families. We are driven by a nationwide community of ambassadors solely focused on supporting patients and families affected by mitochondrial disease. We are committed and energized to make a difference by funding the best science in the world.
MitoCanada's mission is to create a world where all lives are powered by healthy mitochondria. We are dedicated to supporting Canadians living with mitochondrial disease by developing education and awareness programs, advocating to improve the health and quality of life of those living with mito at provincial and federal levels, and we fund research that is patient-focused and transformational.
MitoAction’s mission is to improve the quality of life for children, adults, and families living with mitochondrial disease through support, education, outreach, advocacy, clinical research initiatives and by granting wishes for children affected by mitochondrial disease.
Mississippi Metabolics Foundation
Mississippi Metabolics Foundation (MMF) was founded to raise awareness, educate, and provide support to those living or caring for someone with genetic metabolic disorders/inborn errors of metabolism (IEM).
Louisiana Metabolic Disorders Coalition
We support, educate, and advocate for patients & families affected by metabolic disorders.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
For a list of clinical trials in this disease area, please click here.