一种新型 Gitelman 综合征伴低钙血症的 SLC12A3 纯合子 c2039delG 突变。
A novel SLC12A3 homozygous c2039delG mutation in Gitelman syndrome with hypocalcemia.
机构信息
The Endocrinology Department of the Third Xiangya Hospital, Central South University, Tongzipo Road, Changsha, 410013, China.
出版信息
BMC Nephrol. 2018 Dec 17;19(1):362. doi: 10.1186/s12882-018-1163-3.
BACKGROUND
Gitelman syndrome (GS) is a rare autosomal recessive renal tubular disease, caused by mutations in the SLC12A3 gene, which encodes the renal thiazide-sensitive Na/Cl cotransporter (NCCT) in the distal renal tubule.
CASE PRESENTATION
A 23-year-old woman was admitted with limb numbness, recurrent tetany and palpitation. Laboratory tests showed hypokalemic alkalosis, hypomagnesemia, hypocalcemia and secondary hyperaldosteronism, as well as hypocalciuria and transient decreased PTH. Next-generation sequencing detected a novel homozygous mutations c.2039delG in the SLC12A3 gene, and her father and children were all heterozygous carriers.
CONCLUSION
We reported a case of GS with a novel homozygous frame-shift mutation of SLC12A3, and reviewed recent literatures about diagnosis, differential diagnosis and treatments. Hypocalcemia in Gitelman syndrome is rare, and may be related to inhibited PTH secretion induced by hypomagnesemia.
背景
Gitelman 综合征（GS）是一种罕见的常染色体隐性遗传性肾小管疾病，由 SLC12A3 基因突变引起，该基因编码远端肾小管中的噻嗪敏感的 Na/Cl 共转运体（NCCT）。
病例介绍
一名 23 岁女性因四肢麻木、反复抽搐和心悸入院。实验室检查显示低钾性碱中毒、低镁血症、低钙血症和继发性醛固酮增多症，以及低钙尿和一过性甲状旁腺激素降低。下一代测序检测到 SLC12A3 基因的一个新的纯合缺失突变 c.2039delG，其父亲和孩子均为杂合子携带者。
结论
我们报道了一例 SLC12A3 基因新型纯合框移突变的 GS 病例，并复习了最近关于其诊断、鉴别诊断和治疗的文献。Gitelman 综合征中的低钙血症较为罕见，可能与低镁血症诱导的甲状旁腺激素分泌抑制有关。
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