欢迎来到《四川大学学报(医学版)》
唐薇薇, 马晚霞, 孙世怡, 等. 由KLHL3新基因突变所致假性醛固酮减少症Ⅱ型1例报告[J]. 四川大学学报(医学版), 2021, 52(5): 890-894. DOI: 10.12182/20210960503
引用本文: 唐薇薇, 马晚霞, 孙世怡, 等. 由KLHL3新基因突变所致假性醛固酮减少症Ⅱ型1例报告[J]. 四川大学学报(医学版), 2021, 52(5): 890-894. DOI: 10.12182/20210960503
TANG Wei-wei, MA Wan-xia, SUN Shi-yi, et al. A Case of Pseudohypoaldosteronism Type Ⅱ (PHA2) Caused by a Novel Mutation of KLHL3[J]. Journal of Sichuan University (Medical Sciences), 2021, 52(5): 890-894. DOI: 10.12182/20210960503
Citation: TANG Wei-wei, MA Wan-xia, SUN Shi-yi, et al. A Case of Pseudohypoaldosteronism Type Ⅱ (PHA2) Caused by a Novel Mutation of KLHL3[J]. Journal of Sichuan University (Medical Sciences), 2021, 52(5): 890-894. DOI: 10.12182/20210960503

KLHL3新基因突变所致假性醛固酮减少症Ⅱ型1例报告

A Case of Pseudohypoaldosteronism Type Ⅱ (PHA2) Caused by a Novel Mutation of KLHL3

  • 摘要: 患者,女,41岁,因“发现血钾升高18 d”入院。入院前18 d患者在外院住院期间查见血钾升高,予以对症处理,血钾正常后出院,因出院后反复血钾升高来我院就诊。患者有“急性肾炎”及“妊娠高血压”病史;入院半年前发现血压轻度升高未予干预。其父亲有“高血压、糖尿病”病史。入院后实验室检查发现患者具有高钾血症、高氯血症、代谢性酸中毒、血浆肾素水平低下但醛固酮水平正常等特点,基因检测发现KLHL3(Kelch like family member 3)基因出现一个c.1115delG新突变,从而确诊为假性醛固酮减少症Ⅱ型。给予间断性规律盐酸氢氯噻嗪口服治疗,患者血清电解质水平、血pH及BE、BEB恢复正常范围,随访12个月,患者无不适。

     

    Abstract: The patient, a 41-year-old woman, was admitted because “it was found out she had elevated serum potassium levels for 18 days”. Eighteen days prior to admission at our hospital, the patient was found to have elevated serum potassium during hospitalization at another hospital, where the patient received symptomatic treatment and was discharged after her serum potassium returned to a normal level. However, the patient still had elevated serum potassium repeatedly and was referred to our hospital for further examination. The patient had a history of acute nephritis and gestational hypertension. Six months prior to admission at our hospital, it was found out that the patient had slightly elevated blood pressure, but no intervention was done. The patient’s father has a history of hypertension and diabetes. After admission, laboratory results showed that the patient had hyperkalemia, hyperchloremia and metabolic acidosis. The level of plasma renin was obviously below the normal range, but the concentration of plasma aldosterone was within the normal range. A new mutation locus (c.1115delG) in KLHL3 (Kelch like family member 3) gene was revealed by genetic testing, leading to the diagnosis of pseudoaldosteronism type Ⅱ (PHA2). The patient was given regular treatment of oral hydrochlorothiazide hydrochloride at set intervals. Subsequently, her blood electrolyte level, blood pH, BE and BEB have returned to normal levels. The patient was followed up for 12 months and did not feel unwell during the follow-up period.

     

/

返回文章
返回