Jiang Y, Mou L, Li X
Department of Nephrology, The Quzhou Affiliated Hospital of Wenzhou Medical University, Quzhou People's Hospital, Quzhou, China.
Department of Nephrology, Second Affiliated Hospital of Zhejiang University School of Medicine, Hangzhou, China.
Hippokratia. 2023 Apr-Jun;27(2):64-68.
Gitelman syndrome (GS) is a rare autosomal recessive salt-losing tubulopathy. Mutations in the gene encoding the renal thiazide-sensitive Na/Cl cotransporter in the distal renal tubule, cause GS. Identifying biallelic inactivating mutations in the gene is the most common finding in GS, while the detection of renal calculi is relatively rare.
We report the case of a 33-year-old man admitted with recurrent limb weakness for six years. Laboratory tests showed hypokalemic alkalosis, hypocalciuria and renal potassium wasting; serum magnesium and aldosterone were normal, and ultrasound and computed tomography scans showed right-sided renal calculus. A hydrochlorothiazide test was performed, which showed a blunted response to hydrochlorothiazide. Next-generation sequencing identified triple mutations in , including novel splicing heterozygous mutations (c.2285+2T>C). He was administered with oral potassium chloride and spironolactone and maintained mild symptomatic hypokalemia during his follow-up.
The patient was diagnosed with Gitelman syndrome by genetic testing, accompanied by kidney stones. Although kidney stones are rare in Gitelman syndrome, they are not excluded as a criterion. The composition of kidney stones may be of significance for diagnosis and treatment. HIPPOKRATIA 2023, 27 (2):64-68.
吉特林综合征（GS）是一种罕见的常染色体隐性遗传性失盐性肾小管病。远端肾小管中编码噻嗪类敏感钠/氯共转运体的基因突变会导致GS。在GS中最常见的发现是鉴定该基因的双等位基因失活突变，而肾结石的检出相对少见。
我们报告了一名33岁男性患者，因反复肢体无力6年入院。实验室检查显示低钾性碱中毒、低钙尿症和肾性钾丢失；血清镁和醛固酮正常，超声和计算机断层扫描显示右侧肾结石。进行了氢氯噻嗪试验，结果显示对氢氯噻嗪反应迟钝。下一代测序在该基因中鉴定出三个突变，包括新的剪接杂合突变（c.2285+2T>C）。在随访期间，给予他口服氯化钾和螺内酯，并维持轻度症状性低钾血症。
该患者经基因检测诊断为吉特林综合征，并伴有肾结石。虽然肾结石在吉特林综合征中罕见，但不能排除作为一项标准。肾结石的成分可能对诊断和治疗具有重要意义。《希波克拉底》2023年，27（2）：64 - 68。
