II 型假性醛固酮减少症伴同型 KLHL3 变异及甲状腺功能亢进症 1 例报告。
A case report of pseudohypoaldosteronism type II with a homozygous KLHL3 variant accompanied by hyperthyroidism.
机构信息
Department of Endocrinology and Metabolism, Peking University People's Hospital, No 11, Xizhimen Nan Street, Xicheng District, 100044, Beijing, China.
出版信息
BMC Endocr Disord. 2021 May 22;21(1):103. doi: 10.1186/s12902-021-00767-w.
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.
背景
假性醛固酮减少症 II 型（PHAII），也称 Gordon 综合征，是一种罕见的遗传性疾病，由 WNK1、WNK4、KLHL3 和 CUL3 基因突变引起。PHAII 合并甲状腺功能亢进和继发性甲状旁腺功能亢进以前尚未报道过。
病例介绍
一名 54 岁女性，近期被诊断为 Graves 病，表现为高钾血症、高血压、高钙尿症、甲状旁腺激素（PTH）水平升高和肾功能正常。根据 KLHL3 基因中的纯合变异（c.328A>G，T110A）发现 PHAII。小剂量噻嗪类利尿剂可使她的血钾、血钙和 PTH 恢复正常。
结论
由 KLHL3 变异引起的 PHAII 可影响成年后期的患者。对于高血压、持续性高钾血症和正常 eGFR 的患者，应考虑该诊断，噻嗪类药物可纠正该疾病。该患者还患有甲状腺功能亢进和继发性甲状旁腺功能亢进。噻嗪类药物治疗也纠正了后者。甲状腺功能亢进被认为与 PHAII 无关。
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