Yao Junlan, Li Xiangji, Lu Wei
Department of Pediatrics, Yichang Central People's Hospital & the First College of Clinical Medical Science, China Three Gorges University, Yichang, China.
Institute of Pediatrics, China Three Gorges University, Yichang, China.
Transl Pediatr. 2025 Aug 31;14(8):2066-2074. doi: 10.21037/tp-2025-500. Epub 2025 Aug 27.
Graves' disease and pseudohypoaldosteronism type IID (PHA IID) are rare pediatric endocrine diseases with different etiologies and pathological features. Graves' disease is caused by autoimmune thyroid stimulation, while PHA IID is an inherited renal tubular disorder characterized by hyperkalemia and hypertension due to mutations in the gene. A rare pediatric case of concurrent Graves' disease and PHA IID with a gene mutation is reported. The clinical manifestations, diagnostic process, and treatment plans for the two conditions are discussed to provide a reference for the management of similar cases.
On the initial hospitalization, the patient presented with sudden onset of altered consciousness, tachycardia, and electrolyte disturbances, including hyperkalemia and metabolic acidosis. Following thyroid function tests and thyroid ultrasonography, a diagnosis of Graves' disease was made. Antithyroid treatment with methimazole and propranolol was administered, leading to an improvement in the blood gas and biochemical parameters. Although thyroid function was controlled, the patient's hyperkalemia, hyperchloremia, metabolic acidosis, and hypertension remained refractory to treatment. Further genetic testing revealed a gene mutation, confirming the diagnosis of PHA IID. After treatment with hydrochlorothiazide (10 mg), the patient's electrolyte imbalances and blood pressure normalized.
The simultaneous occurrence of Graves' disease and PHA IID is rare in children. Clinicians should be alert to the possibility of such comorbidities in clinical practice. For patients with persistent hyperkalemia, particularly those with concomitant metabolic acidosis and hyperchloremia, early genetic testing can enhance diagnostic efficiency and optimize treatment strategies.
格雷夫斯病和Ⅰ型假性醛固酮减少症（PHA IID）是病因和病理特征不同的罕见儿科内分泌疾病。格雷夫斯病由自身免疫性甲状腺刺激引起，而PHA IID是一种遗传性肾小管疾病，由于基因发生突变，其特征为高钾血症和高血压。本文报告了一例罕见的同时患有格雷夫斯病和PHA IID且存在基因突变的儿科病例。讨论了这两种疾病的临床表现、诊断过程和治疗方案，为类似病例的管理提供参考。
初次住院时，患者出现意识改变、心动过速和电解质紊乱，包括高钾血症和代谢性酸中毒。经过甲状腺功能检查和甲状腺超声检查，诊断为格雷夫斯病。给予甲巯咪唑和普萘洛尔进行抗甲状腺治疗，血气和生化参数有所改善。尽管甲状腺功能得到控制，但患者的高钾血症、高氯血症、代谢性酸中毒和高血压对治疗仍无反应。进一步的基因检测发现了基因突变，确诊为PHA IID。使用氢氯噻嗪（10毫克）治疗后，患者的电解质失衡和血压恢复正常。
格雷夫斯病和PHA IID在儿童中同时发生的情况罕见。临床医生在临床实践中应警惕这种合并症的可能性。对于持续存在高钾血症的患者，尤其是伴有代谢性酸中毒和高氯血症的患者，早期基因检测可提高诊断效率并优化治疗策略。
