1例吉特曼综合征合并生长激素缺乏症

Lu Guanwu, Liang Xiaoyu, Huang Tingguan, Wu Guansheng

Clin Lab. 2025 Jul 1;71(7). doi: 10.7754/Clin.Lab.2025.241246.

BACKGROUND

In September 2022, a case of Gitelman syndrome combined with growth hormone deficiency was diagnosed in the pediatrics department of our hospital. The patient was a 14-year-old male who was admitted to the hospital due to weakness in both lower extremities for two days and the symptoms had worsened within half a day. From 2016 to 2022, the patient had been hospitalized four times for hypokalemia. The clinical manifestations included weakness in both lower extremities, difficulty walking, muscle pain in the lower extremities and thirst.

METHODS

Blood and urine electrolyte tests, genetic testing for hereditary kidney diseases, and growth hormone stimulation tests were conducted.

RESULTS

Laboratory test results showed potassium (K+) at 1.90 mmol/L, magnesium (Mg) at 0.65 mmol/L, 24-hour urine calcium at 0.12 mmol/24 hour, pH at 7.454, PaCO2 at 44.5 mmHg, PaO2 at 90 mmHg, HCO3- at 31.2 mmol/L, and BE at 7 mmol/L. Genetic testing for hereditary kidney diseases revealed that the child and his mother carried a heterozygous nucleotide variation of the SLC12A3 gene, c.497C>T, resulting in a missense variation of p.Ala166Val; the father did not have this variation, and no large fragment variations of the SLC12A3 gene were found. The final diagnosis was Gitelman syndrome caused by a single heterozygous mutation. Additionally, the patient's height was 148 cm (below the third percentile, -2.49 SD), and the results of the growth hormone stimulation test indicated growth hormone deficiency. After a multidisciplinary consultation, the diagnosis was con-firmed as: 1. Gitelman syndrome (hypokalemia); 2. Growth hormone deficiency. Oral spironolactone tablets were given for potassium retention treatment, and subcutaneous injection of recombinant human growth hormone was recommended. The patient's condition improved, and regular follow-ups were advised.

CONCLUSIONS

Case of Gitelman syndrome (GS) combined with growth hormone (GH) deficiency are relatively rare. This case enriches the understanding of concurrent symptoms of GS and is helpful for improving the clinical understanding and treatment level of this disease.

背景

2022年9月，我院儿科诊断出1例吉特曼综合征合并生长激素缺乏症。患者为14岁男性，因双下肢无力2天入院，且症状在半天内加重。2016年至2022年期间，该患者因低钾血症已住院4次。临床表现包括双下肢无力、行走困难、下肢肌肉疼痛和口渴。

方法

进行了血液和尿液电解质检查、遗传性肾病基因检测以及生长激素刺激试验。

结果

实验室检查结果显示，血钾（K+）为1.90 mmol/L，血镁（Mg）为0.65 mmol/L，24小时尿钙为0.12 mmol/24小时，pH值为7.454，动脉血二氧化碳分压（PaCO2）为44.5 mmHg，动脉血氧分压（PaO2）为90 mmHg，碳酸氢根离子（HCO3-）为31.2 mmol/L，碱剩余（BE）为7 mmol/L。遗传性肾病基因检测显示，患儿及其母亲携带SLC12A3基因的杂合核苷酸变异，c.497C>T，导致错义变异p.Ala166Val；父亲无此变异，且未发现SLC12A3基因的大片段变异。最终诊断为单杂合突变导致的吉特曼综合征。此外，患者身高为148 cm（低于第3百分位数，-2.49标准差），生长激素刺激试验结果表明存在生长激素缺乏。经过多学科会诊，确诊为：1. 吉特曼综合征（低钾血症）；2. 生长激素缺乏。给予口服螺内酯片进行保钾治疗，并建议皮下注射重组人生长激素。患者病情好转，并建议定期随访。