Rui Zhang1, Simin Zhang1, Yingying Luo1, Meng Li1, Xin Wen1, Xiaoling Cai1, Xueyao Han2, Linong Ji1. 1. Department of Endocrinology and Metabolism, Peking University People's Hospital, No 11, Xizhimen Nan Street, Xicheng District, 100044, Beijing, China. 2. Department of Endocrinology and Metabolism, Peking University People's Hospital, No 11, Xizhimen Nan Street, Xicheng District, 100044, Beijing, China. xueyaohan@sina.com.
Abstract
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 PRESENTATION: A 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. 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 also had hyperthyroidism and secondary hyperparathyroidism. The latter was also corrected by thiazide treatment. The hyperthyroidism was assumed to be unrelated to PHAII.
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 PRESENTATION: A 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. 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 also had hyperthyroidism and secondary hyperparathyroidism. The latter was also corrected by thiazide treatment. The hyperthyroidism was assumed to be unrelated to PHAII.
Entities:
Keywords:
Case report; Hyperkalemia; Hyperthyroidism; Pseudohypoaldosteronism type II; Secondary hyperparathyroidism
Authors: Ji Soo Park; Eujin Park; Hye Sun Hyun; Yo Han Ahn; Hee Gyung Kang; Il-Soo Ha; Hae Il Cheong Journal: J Pediatr Endocrinol Metab Date: 2017-03-01 Impact factor: 1.634
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