| 摘要: |
| 目的:分析肾型假性醛固酮减少症型(PHA)Ⅰ型患儿的临床特点、基因突变、治疗和预后。方法:回顾性分析1 例肾型
PHAⅠ型患儿的临床资料,采用全外显子组测序(WES)结合家系分析检测基因突变,结合文献复习总结肾型PHAⅠ型的临床
特点、基因突变、治疗和预后。结果:患儿,男,1 个月,因“解水样便伴体质量不增1 个月”入院。实验室检查血钾6. 64 mmol/ L,
血钠125 mmol/ L,血醛固酮>100 ng/ dL,血肾素活性>50 ng/ ( mL·h),17-羟孕酮正常,WES 基因检测出患儿第4 号染色体
NR3C2 基因存在c. 1633 C>T 杂合突变。补钠降钾治疗后定期检测电解质正常,1 岁时停止补钠治疗,定期随访生长发育正常。
已明确报道的肾型PHAⅠ病例35 例,合并本例后共36 例,均发现NR3C2 基因突变,临床表现大多数为新生儿期起病的失盐症
状,失盐只局限于肾脏,通常表现较轻,血钠低,血钾、血醛固酮、肾素活性升高,补钠降钾治疗有效,大多数患儿可在2 岁前停止
补钠治疗,预后良好。结论:肾型PHAⅠ型是易漏诊、误诊的罕见病。对疑似患儿应联合检测血醛固酮、肾素活性及NR3C2 基
因,早期诊断和个体化补钠治疗可显著改善预后。 |
| 关键词: 假性醛固酮减少症Ⅰ型 NR3C2 基因 儿童 |
| DOI：10.13407/j.cnki.jpp.1672-108X.2025.12.010 |
|
| 基金项目: |
|
| Renal Pseudohypoaldosteronism Type Ⅰ: a Case Report and Literature Review |
| Shi Huiling, Li Yan |
| (Meizhou People’s Hospital, Guangdong Meizhou 514000, China) |
| Abstract: |
| Objective: To analyze the clinical characteristics, gene mutations, treatment and prognosis of children with renal
pseudohypoaldosteronism type Ⅰ (PHA Ⅰ). Methods: Clinical data of a child with renal PHA Ⅰ were retrospectively analyzed.
Whole exome sequencing (WES) combined with family analysis was used to detect gene mutation. The clinical characteristics, gene
mutations, treatment and prognosis of renal PHA Ⅰ were summarized based on literature review. Results: A 1-month-old boy was
admitted into the hospital due to “watery stool and failure to thrive for 1 month”. Laboratory findings showed hyperkalemia (6.64 mmol/ L),
hyponatremia (125 mmol/ L), elevated serum aldosterone ( > 100 ng/ dL) and renin levels [ > 50 ng/ ( mL · h)] and normal
17-hydroxyprogesterone level. WES gene detection revealed a heterozygous mutation of C. 1633 C>T in NR3C2 gene on chromosome 4.
Regular electrolyte testings were normal by the treatment of sodium supplementation and potassium reduction. Sodium supplementation
was discontinued at 1 year old. Regular follow-up showed normal growth and development. A total of 35 cases of renal PHAⅠ had been
clearly reported. After including this case, the total number was 36 cases. All of these cases had mutations in NR3C2 gene. Most of the
clinical manifestations were neonatal onset symptoms of salt loss, which was limited to the kidney and usually mild, with low serum
sodium, elevated serum potassium, serum aldosterone, and renin levels, most children could stop sodium supplementation before the age
of 2 years, and the prognosis was good. Conclusion: Renal PHA Ⅰ is a rare disease that is prone to being misdiagnosed or missed. For
suspected patients, combined detection of blood aldosterone, renin levels, and the NR3C2 gene should be conducted. Early diagnosis
and individualized sodium supplementation therapy can significantly improve the prognosis. |
| Key words: pseudohypoaldosteronism type Ⅰ NR3C2 gene children |
