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GTR Home > Conditions/Phenotypes > Familial juvenile hyperuricemic nephropathy type 1

Familial juvenile hyperuricemic nephropathy type 1

Synonyms
Glomerulocystic kidney disease with hyperuricemia and isosthenuria; Medullary cystic kidney disease 2; Medullary cystic kidney disease 2, autosomal dominant; TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 1; UMOD-Associated Kidney Disease; Uromodulin-associated kidney disease
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

Excerpted from the GeneReview: Autosomal Dominant Tubulointerstitial Kidney Disease – UMOD
Autosomal dominant tubulointerstitial kidney disease – UMOD (ADTKD-UMOD) is characterized by normal urinalysis and slowly progressive chronic kidney disease (CKD), usually first noted in the teen years and progressing to end-stage renal disease (ESRD) between the third and seventh decades. Hyperuricemia is often present from an early age, and gout (resulting from reduced kidney excretion of uric acid) occurs in the teenage years in about 8% of affected individuals and develops in 55% of affected individuals over time.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Anthony J Bleyer
Kendrah Kidd
Martina Živná
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Available tests

51 tests are in the database for this condition.

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Clinical tests (51 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ADMCKD2, ADTKD1, FJHN, HNFJ, HNFJ1, MCKD2, THGP, THP, UMOD
    Summary: uromodulin

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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