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GTR Home > Conditions/Phenotypes > Hyperuricemic nephropathy, familial juvenile type 4

Hyperuricemic nephropathy, familial juvenile type 4

Synonyms
TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 5

Summary

Autosomal dominant tubulointerstitial kidney disease-5 (ADTKD5) is characterized by the onset of progressive chronic renal disease in the first decades of life. Mild hyperuricemia may be present, but gout, hypertension, and proteinuria are usually absent. The disease may be associated with anemia or neutropenia. Some patients may have additional findings, including poor overall growth and impaired cognitive function. Renal biopsy shows tubulointerstitial abnormalities with atrophic tubules and fibrosis; secondary glomerular abnormalities and simple cysts may also be present (summary by Bolar et al., 2016). For a discussion of genetic heterogeneity and revised nomenclature of ADTKD, see ADTKD1 (162000). [from OMIM]

Available tests

22 tests are in the database for this condition.

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Clinical tests (22 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ADTKD5, CVID15, HNFJ4, HSEC61, SEC61, SEC61A, SEC61A1
    Summary: SEC61 translocon subunit alpha 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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