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

Rui Zhang,Simin Zhang,Linong Ji,Xiaoling Cai,Xin Wen,Yingying Luo,Xueyao Han,Meng Li

doi:10.1186/s12902-021-00767-w

Abstract

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.

Highlights

Pseudohypoaldosteronism type II (PHAII), called Gordon syndrome, is a rare hereditary disease caused by variants in the With no Lysine Kinases 1 (WNK1), With no lysine kinases 4 (WNK4), Kelch-like 3 (KLHL3) and Cullin 3 (CUL3) genes
PHAII caused by a KLHL3 variant can affect adults later in life
This diagnosis should be considered in patients with hypertension, consistent hyperkalemia, and normal estimated glomerular filtration rate (eGFR) and can be corrected by thiazides

Summary

Conclusions

PHAII 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 had hyperthyroidism and secondary hyperparathyroidism. The latter was corrected by thiazide treatment. The hyperthyroidism was assumed to be unrelated to PHAII

Background

Discussion and conclusions