Infantile nephronophthisis
Synonyms: Autosomal recessive infantile NPHP | Autosomal recessive infantile nephronophthisis
A rare clinical variant of hereditary nephronophthisis characterized by reduced renal concentrating ability chronic tubulointerstitial nephritis cystic renal disease and progression to end-stage renal disease (ESRD) before 3 years of age.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
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Infantile nephronophthisis?
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Advocacy Organizations
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Help Hope Live assists individuals living with catastrophic injuries and illnesses to fundraise toward their medical expenses and related costs.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
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