Identification of a novel UMOD mutation (c.163G>A) in a Brazilian family with autosomal dominant tubulointerstitial kidney disease

Autor: Andrea Alice da Silva, Jorge Reis Almeida, F. Aguiar-Alves, Stanislav Kmoch, L.B. Lopes, L.E.R. Guimaraes, Kendrah Kidd, C.C. Abreu, Cintia Fernandes de Souza, Anthony J. Bleyer
Jazyk: angličtina
Rok vydání: 2018
Předmět:
0301 basic medicine
Tamm–Horsfall protein
Physiology
medicine.medical_treatment
Biopsy
030232 urology & nephrology
Genetic mutation
medicine.disease_cause
Biochemistry
0302 clinical medicine
Chronic kidney disease
Genotype
Medicine
General Pharmacology
Toxicology and Pharmaceutics
lcsh:QH301-705.5
Research Articles
Uromodulin kidney disease
Genetics
lcsh:R5-920
Mutation
biology
medicine.diagnostic_test
General Neuroscience
General Medicine
Genetic kidney diseases
Middle Aged
Polycystic Kidney
Autosomal Dominant
3. Good health
Pedigree
Female
lcsh:Medicine (General)
Immunology
Biophysics
Ocean Engineering
Peritoneal dialysis
UMOD
03 medical and health sciences
Uromodulin
Humans
Genetic testing
business.industry
Cell Biology
medicine.disease
Gout
030104 developmental biology
lcsh:Biology (General)
Tubulointerstitial fibrosis
biology.protein
business
Kidney disease
Zdroj: Brazilian Journal of Medical and Biological Research
Brazilian Journal of Medical and Biological Research, Volume: 51, Issue: 3, Article number: e6560, Published: 01 MAR 2018
Brazilian Journal of Medical and Biological Research, Vol 51, Iss 3 (2018)
Brazilian Journal of Medical and Biological Research v.51 n.3 2018
Associação Brasileira de Divulgação Científica (ABDC)
instacron:ABDC
ISSN: 1414-431X
0100-879X
Popis: Autosomal dominant tubulointerstitial kidney disease (ADTKD) is characterized by autosomal dominant inheritance, progressive chronic kidney disease, and a bland urinary sediment. ADTKD is most commonly caused by mutations in the UMOD gene encoding uromodulin (ADTKD-UMOD). We herein report the first confirmed case of a multi-generational Brazilian family with ADTKD-UMOD, caused by a novel heterozygous mutation (c.163G>A, GGC→AGC, p.Gly55Ser) in the UMOD gene. Of 41 family members, 22 underwent genetic analysis, with 11 individuals found to have this mutation. Three affected individuals underwent hemodialysis, one peritoneal dialysis, and one patient received a kidney transplant from a family member later found to be genetically affected. Several younger individuals affected with the mutation were also identified. Clinical characteristics included a bland urinary sediment in all tested individuals and a kidney biopsy in one individual showing tubulointerstitial fibrosis. Unlike most other reported families with ADTKD-UMOD, neither gout nor hyperuricemia was found in affected individuals. In summary, we report a novel UMOD mutation in a Brazilian family with 11 affected members, and we discuss the importance of performing genetic testing in families with inherited kidney disease of unknown cause.
Databáze: OpenAIRE
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