Barakat综合征新生儿氟康唑依赖性严重低钙血症

IF 0.5 Q4 PEDIATRICS
Case Reports in Pediatrics Pub Date : 2025-07-10 eCollection Date: 2025-01-01 DOI:10.1155/crpe/1394105
Dorota Roztoczyńska, Anna Wędrychowicz, Magdalena Ossowska, Aleksandra Furtak, Paulina Miśkiewicz-Stanek, Ewelina Preizner-Rzucidło, Joanna Kwinta-Rybicka, Mateusz Jagła, Jerzy B Starzyk
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引用次数: 0

摘要

我们报告一个新生儿Barakat综合征的病例,其特征是先天性甲状旁腺功能低下,严重的低钙血症,复发性尿路感染(uti)和先天性念珠菌病,这是该综合征的非典型特征。该患者足月出生,表现为畸形、听力丧失和肾功能不全。基因检测发现了一种新的GATA3突变体。氟康唑用于治疗复发性尿路感染和先天性念珠菌病,出乎意料地在钙水平正常化中发挥了关键作用。这种效果可能归因于氟康唑对维生素D代谢的影响,潜在地促进钙的吸收和再吸收。该患者钙水平的正常化强调了抗真菌治疗和钙稳态之间复杂的相互作用,特别是在先天性甲状旁腺功能低下患者中。本病例强调了基因检测在诊断新生儿低钙血症中的重要性,并说明氟康唑可能影响Barakat综合征的钙代谢。多学科的方法,包括免疫学、肾病学和耳鼻喉科的评估,对于全面的长期护理是必不可少的。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

Severe Hypocalcemia Dependent on Fluconazole in a Newborn With Barakat Syndrome.

Severe Hypocalcemia Dependent on Fluconazole in a Newborn With Barakat Syndrome.

Severe Hypocalcemia Dependent on Fluconazole in a Newborn With Barakat Syndrome.

We present a case of a newborn with Barakat syndrome, characterized by congenital hypoparathyroidism, severe hypocalcemia, recurrent urinary tract infections (UTIs), and congenital candidiasis, which is an atypical feature for this syndrome. The patient, born at term, exhibited dysmorphia, hearing loss, and renal dysfunction. Genetic testing revealed a novel, de novo GATA3 variant. Fluconazole, introduced to treat recurrent UTIs and congenital candidiasis, unexpectedly played a crucial role in normalizing calcium levels. This effect may be attributed to fluconazole's influence on the metabolism of vitamin D, potentially enhancing calcium absorption and reabsorption. The normalization of calcium levels in this patient emphasizes the complex interplay between antifungal therapy and calcium homeostasis, particularly in patients with congenital hypoparathyroidism. This case highlights the importance of genetic testing in diagnosing neonatal hypocalcemia and illustrates the potential for fluconazole to impact calcium metabolism in Barakat syndrome. A multidisciplinary approach, including immunological, nephrological, and otolaryngological evaluations, is essential for comprehensive long-term care.

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自引率
11.10%
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审稿时长
13 weeks
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