Genotype-phenotype correlation in Gordon's syndrome: report of two cases carrying novel heterozygous mutations.

Autor: Anglani F; Nephrology, Dialysis and Transplantation Unit, Department of Medicine-DIMED, University of Padua, Via Giustiniani n° 2, 35128, Padua, Italy., Salviati L; Clinical Genetics Unit, Department of Women's and Children's Health, University of Padua, Padua, Italy., Cassina M; Clinical Genetics Unit, Department of Women's and Children's Health, University of Padua, Padua, Italy., Rigato M; Nephrology, Dialysis and Transplantation Unit, Department of Medicine-DIMED, University of Padua, Via Giustiniani n° 2, 35128, Padua, Italy., Gobbi L; Nephrology, Dialysis and Transplantation Unit, Department of Medicine-DIMED, University of Padua, Via Giustiniani n° 2, 35128, Padua, Italy., Calò LA; Nephrology, Dialysis and Transplantation Unit, Department of Medicine-DIMED, University of Padua, Via Giustiniani n° 2, 35128, Padua, Italy. renzcalo@unipd.it.
Jazyk: angličtina
Zdroj: Journal of nephrology [J Nephrol] 2022 Apr; Vol. 35 (3), pp. 859-862. Date of Electronic Publication: 2021 Jun 05.
DOI: 10.1007/s40620-021-01083-1
Abstrakt: Gordon's syndrome, known also as Pseudohypoaldosteronism type II is a rare inherited dominant form of low-renin hypertension associated with hyperkalemia and metabolic acidosis. Four genes related to the regulation of the NaCl co-symporter NCC have been discovered associated to Gordon phenotypes: WINK 1 and WINK4, which, along with WNK2 and WNK3, encode a family of WNK-kinases, and KLHL3 and CUL3 encoding respectively, Kelch-like 3 protein and cullin. Heterozygous mutations in these genes constitutively activate NCC leading to abnormally increased salt reabsorption and salt-sensitive hypertension. Thiazide diuretic is the recognized treatment for this condition. We report and discuss phenotypic and genetic heterogeneity of two patients with Gordon's syndrome carrying novel heterozygous mutations in the WNK1 and KLHL3 genes. A very rare variant in the SCNN1G gene encoding the γ subunit of epithelial sodium channel ENaC was also identified in one patient.
(© 2021. Italian Society of Nephrology.)
Databáze: MEDLINE
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