A case report of pseudohypoaldosteronism type II with a homozygous KLHL3 variant accompanied by hyperthyroidism

BMC Endocrine Disorders

Xueyao Han¹  Rui Zhang¹  Simin Zhang¹  Yingying Luo¹  Linong Ji¹  Xin Wen¹  Meng Li¹  Xiaoling Cai¹ 

[1] Department of Endocrinology and Metabolism, Peking University People’s Hospital, No 11, Xizhimen Nan Street, Xicheng District, 100044, Beijing, China;

关键词: Pseudohypoaldosteronism type II;    Hyperkalemia;    Secondary hyperparathyroidism;    Hyperthyroidism;    Case report;   

DOI  :  10.1186/s12902-021-00767-w

来源: Springer

【 摘 要 】

BackgroundPseudohypoaldosteronism 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 presentationA 54-year-old female with recently diagnosed Graves’ disease presented hyperkalemia, hypertension, hypercalciuria, elevated levels of parathyroid hormone (PTH) and normal renal function. PHAII was established based on the finding of a homozygous variant (c.328 A > G, T110A) in the KLHL3 gene. Low-dose thiazide diuretics normalized her potassium, calcium and PTH.ConclusionsPHAII caused by a KLHL3 variant can affect adults later in life. This diagnosis should be considered in patients with hypertension, consistent hyperkalemia, and normal eGFR and can be corrected by thiazides. The patient also had hyperthyroidism and secondary hyperparathyroidism. The latter was also corrected by thiazide treatment. The hyperthyroidism was assumed to be unrelated to PHAII.

【 授权许可】

CC BY