Genotype–phenotype correlation in Gordon’s syndrome: report of two cases carrying novel heterozygous mutations
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: WI...
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Published in | Journal of nephrology Vol. 35; no. 3; pp. 859 - 862 |
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Main Authors | , , , , , |
Format | Journal Article |
Language | English |
Published |
Cham
Springer International Publishing
01.04.2022
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Subjects | |
Online Access | Get full text |
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Summary: | 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. |
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Bibliography: | ObjectType-Case Study-2 SourceType-Scholarly Journals-1 ObjectType-Feature-4 content type line 23 ObjectType-Report-1 ObjectType-Article-3 |
ISSN: | 1724-6059 1724-6059 |
DOI: | 10.1007/s40620-021-01083-1 |