Department of Geriatric Endocrinology, Shandong Provincial Hospital Affiliated to Shandong University, Jinan, China.
Medicine (Baltimore). 2023 Sep 1;102(35):e34967. doi: 10.1097/MD.0000000000034967.
The diagnosis of Gentleman syndrome (GS) is usually delayed because the clinical symptoms are easily mistaken.
A 19-year-old male patient was referred to endocrinology due to intermittent twitch of extremities for approximately 7 years.
The diagnosis of GS was made based on the laboratory and gene detection results. We identified 2 new variants in the SLC12A3 gene [c.857 A > C (exon7) and c.2089_2095del (exon17)] in his Asian family.
The patient received the treatment of potassium chloride sustained release tablets, potassium magnesium aspartate and spironolactone. After given potassium supplement through enema, his serum potassium level was corrected to normal.
The electrolyte imbalance including hypokalemia and hypomagnesemia were improved with a remission of the clinical manifestations. But the patient's condition still could not remain stable for his irregular oral potassium supplementation during the follow-up of nearly 3 months.
Our finding broadens the variant spectrum of SLC12A3 and contributes to a more quickly genetic counseling. As a result, when a patient presents with persistent, unspecified, and inadequately treated hypokalemia, tests for GS should indeed be considered. For suspected cases of GS, genetic testing should always be considered in the diagnosis.
Gentleman 综合征（GS）的诊断通常会被延误，因为其临床症状很容易被误诊。
一名 19 岁男性患者因四肢间歇性抽搐约 7 年，被转至内分泌科就诊。
根据实验室和基因检测结果，诊断为 GS。我们在他的亚洲家族中发现了 SLC12A3 基因的 2 个新变异[c.857A>C（外显子 7）和 c.2089_2095del（外显子 17）]。
患者接受了氯化钾控释片、门冬氨酸钾镁和螺内酯治疗。通过灌肠给予补钾后，其血清钾水平恢复正常。
电解质失衡（低钾血症和低镁血症）得到改善，临床症状缓解。但在近 3 个月的随访中，由于患者不规则口服补钾，其病情仍无法保持稳定。
我们的发现拓宽了 SLC12A3 的变异谱，有助于更快速的遗传咨询。因此，当患者出现持续性、不明原因和治疗不充分的低钾血症时，确实应考虑 GS 检查。对于疑似 GS 病例，应始终考虑进行基因检测以明确诊断。
