一个表现为内分泌性高血压的明显矿皮质激素过多的罕见病例

Pub Date : 2024-05-18 DOI:10.25259/ijn_83_2024
Vishnu Vijayakumar, Nitish Kumar, Devesh Kumar, Abhishek Abhinay, Ankur Singh, R. Prasad
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引用次数: 0

摘要

一名 3 岁男孩出现多尿和多饮症状长达 18 个月,并伴有发育不良。他是一名早产儿,妊娠 34 周时出生,出生体重较轻。经检查,患儿体重严重不足,且患有高血压。临床病史和评估结果均未找到继发性高血压的病因。没有明显的家族史。考虑到低钾血症和代谢性碱中毒,计划进行内分泌检查。检查结果显示该患者存在胰岛素分泌过少症,并可能患有明显的矿皮质激素过多症(AME)和利德尔综合征。HSD11B2的临床外显子组序列分析显示,第5外显子发生了一个同源突变(911A>G;p.His304Arg),导致一个错义突变,确诊为AME。在一名伴有低血钾性代谢性碱中毒的早发性高血压患者体内,HSD11B2 基因中发现了一个新的同源变异,从而确诊为 AME。
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A Rare Case of Apparent Mineralocorticoid Excess Presenting as Endocrine Hypertension
A 3-year-old boy presented with polyuria and polydipsia for 18 months, along with growth failure. He was born prematurely, at 34 weeks of gestation, with a low birth weight. On examination, the child was severely underweight and hypertensive. Clinical history and evaluation could not identify any secondary causes of hypertension. There was no significant family history. An endocrine workup was planned, considering hypokalemia and metabolic alkalosis. This demonstrated hyporeninemic hypoaldosteronism and raised the possibility of apparent mineralocorticoid excess (AME) and Liddle syndrome. Clinical exome sequence analysis of HSD11B2 revealed a homozygous mutation in exon 5 (911A>G; p.His304Arg), which resulted in a missense mutation that confirmed the diagnosis of AME. A novel homozygous variant was found in the HSD11B2 gene in a subject with early onset hypertension associated with hypokalemic metabolic alkalosis, establishing the diagnosis of AME.
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