[先天性孤立性促肾上腺皮质激素缺乏症致TBX19致病性变异2例]。

Yu L Skorodok, A V Kozhevnikova, E V Plotnikova, I Y Ioffe, A N Tiulpakov
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摘要

先天性孤立性ACTH缺乏症(СIAD)是一种由ТВХ19 (1q24.2)基因致病变异引起的孤儿常染色体隐性遗传病。本文报道2例新生儿期СIAD的典型表现,经遗传学证实,其中1例首次发现TBX19基因变异。尽管两名患者在新生儿时期出现了明显的症状,但诊断是在生命的第8个月和第22个月确定的。两例患者均出现低血糖的临床表现:患者2从出生第一天(呼吸暂停发作)开始,患者1从7个月(癫痫发作)开始。1例患者主要表现为胆汁淤积性黄疸、肝肿大、肝细胞溶解、蛋白合成肝功能受损。这可能提示非感染性胆汁淤积性肝炎。氢化可的松治疗期间临床和实验室症状的改善和逐渐正常化证实了肝损害与低皮质醇血症的关联。2例患者无胆汁淤积症状。低皮质醇水平观察到降低或低正常ACTH,证实中枢性皮质功能减退。两名患者的遗传研究显示TBX19基因致病性变异处于纯合状态:患者1号为c.82C>;T(p.Q28X),而患者2号为先前描述的变异c.469-1G> a。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

[Two cases of congenital isolated adrenocorticotropic hormone deficiency due to pathogenic variants in <i>TBX19</i>].

[Two cases of congenital isolated adrenocorticotropic hormone deficiency due to pathogenic variants in TBX19].

Congenital isolated ACTH deficiency (СIAD) is an orphan autosomal recessive disease caused by ТВХ19 (1q24.2) gene pathogenic variants. The article presents two cases with a classic manifestation of the СIAD in neonatal period which were confirmed genetically, one of cases revealed the first described TBX19 gene variant. Despite the appearance of significant symptoms in the newborn period in both patients diagnoses were established at the 8th and 22nd months of life. Clinical manifestations of hypoglycemia were present in both patients: from the 1st day of life (episode of apnoea) in patient № 2 and from 7 months (seizures) in patient № 1. Cholestatic jaundice, hepatomegaly, signs of hepatocyte cytolysis, impaired protein-synthetic liver function were the main manifestations of the disease in 1st patient. This may indicate non-infectious cholestatic hepatitis. Improvement and gradual normalization of clinical and laboratory symptoms during hydrocortisone therapy confirmed the association of liver damage with hypocortisolemia. 2nd patient had no signs of cholestasis. Low cortisol levels were observed with reduced or low-normal ACTH, which confirmed central hypocorticism. Genetic study in both patients revealed TBX19 gene pathogenic variants in a homozygous state: c.82C>T(p.Q28X) in patient №1, not previously described variant c.469-1G>A in patient №2.

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