Title :

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

Author(s) :

Davion, Jean-Baptiste [Auteur]
Lille Neurosciences & Cognition - U 1172 [LilNCog]
Coku, Ilda [Auteur]
Lille Neurosciences & Cognition - U 1172 [LilNCog]
Wissocq, A. [Auteur]
Centre Hospitalier Régional Universitaire [CHU Lille] [CHRU Lille]
Genet, A. [Auteur]
Centre Hospitalier Régional Universitaire [CHU Lille] [CHRU Lille]
Poupart, J. [Auteur]
Université catholique de Lille [UCL]
Defebvre, Luc [Auteur]
Lille Neurosciences & Cognition (LilNCog) - U 1172
Huin, Vincent [Auteur]
Lille Neurosciences & Cognition (LilNCog) - U 1172

Journal title :

HELIYON

Abbreviated title :

Heliyon

Volume number :

10

Pages :

e39891

Publication date :

2024-11-18

ISSN :

2405-8440

English keyword(s) :

Case report
Gordon syndrome
Mutation
Pseudohypoaldosteronism
Sensory neuropathy

HAL domain(s) :

Sciences du Vivant [q-bio]

English abstract : [en]

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 ...
Show more >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 girl had a history of pseudohypoaldosteronism type II, and suffered from neuropathic pain associated with a sensory neuronopathy. Her mother and grandfather have pseudohypoaldosteronism type II associated with an asymptomatic sensory neuropathy on nerve conduction studies. Exome sequencing revealed in all affected members two missenses at heterozygous state, one pathogenic variant in KLHL3, which may be responsible for the sensory neuropathy. This is the first description of neurological features associated with KLHL3 mutation. Our study expands the genotype-phenotype spectrum of KLHL3 with the addition of sensory neuronopathy.Show less >

Language :

Anglais

Audience :

Internationale

Popular science :

Non

Administrative institution(s) :

Université de Lille
Inserm
CHU Lille

Collections :

• Lille Neurosciences & Cognition (LilNCog) - U 1172

Submission date :

2024-11-21T22:04:00Z
2025-03-05T09:27:12Z
2025-03-05T09:30:30Z