Cargando…
A case report of pseudohypoaldosteronism type II with a homozygous KLHL3 variant accompanied by hyperthyroidism
BACKGROUND: Pseudohypoaldosteronism type II (PHAII), also called Gordon syndrome, is a rare hereditary disease caused by variants in the WNK1, WNK4, KLHL3 and CUL3 genes. The combination of PHAII with hyperthyroidism and secondary hyperparathyroidism has not been reported previously. CASE PRESENTATI...
Autores principales: | Zhang, Rui, Zhang, Simin, Luo, Yingying, Li, Meng, Wen, Xin, Cai, Xiaoling, Han, Xueyao, Ji, Linong |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2021
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8141237/ https://www.ncbi.nlm.nih.gov/pubmed/34022862 http://dx.doi.org/10.1186/s12902-021-00767-w |
Ejemplares similares
-
A Novel Homozygous KLHL3 Mutation as a Cause of Autosomal Recessive Pseudohypoaldosteronism Type II Diagnosed Late in Life
por: Etges, Annika, et al.
Publicado: (2022) -
A patient with pseudohypoaldosteronism type II complicated by congenital
hypopituitarism carrying a KLHL3 mutation
por: Mitani, Marie, et al.
Publicado: (2016) -
Case report: Homozygous variants of NEB and KLHL40 in two Arab patients with nemaline myopathy
por: Skrypnyk, Cristina, et al.
Publicado: (2023) -
Age at Diagnosis and C-Peptide Level Are Associated with Diabetic Retinopathy in Chinese
por: Cai, Xiaoling, et al.
Publicado: (2014) -
Contribution of mitochondrial gene variants in diabetes and diabetic kidney disease
por: Li, Meng, et al.
Publicado: (2022)