Pseudohypoaldosteronism type II and sensory neuropathy associated with a heterozygous pathogenic variant in KLHL3 gene, a case report.

ABSTRACT: Pseudohypoaldosteronism type II is a rare Mendelian disorder characterized by hypertension, hyperkalemia, hyperchloremia and metabolic acidosis, despite a normal glomerular filtration rate. Four genes (KLHL3, CUL3, WNK1 and WNK4) are associated with this disease. Mutations in the KLHL3 gene cause pseudohypoaldosteronism type II in either an autosomal dominant or a recessive inheritance pattern. Sensory neuropathy has been associated with autosomal recessive mutations in WNK1, but not with KHLH3. We reported a unique three-generation family with dominant pseudohypoaldosteronism type II and sensory neuropathy. Three affected members of the family underwent neurological examination, nerve conduction studies and exome sequencing. A 13-years-old

SUBMITTER: Davion JB 

PROVIDER: S-EPMC11566686 | biostudies-literature | 2024 Nov

REPOSITORIES: biostudies-literature