Dorota Roztoczyńska, Anna Wędrychowicz, Magdalena Ossowska, Aleksandra Furtak, Paulina Miśkiewicz-Stanek, Ewelina Preizner-Rzucidło, Joanna Kwinta-Rybicka, Mateusz Jagła, Jerzy B Starzyk
{"title":"Barakat综合征新生儿氟康唑依赖性严重低钙血症","authors":"Dorota Roztoczyńska, Anna Wędrychowicz, Magdalena Ossowska, Aleksandra Furtak, Paulina Miśkiewicz-Stanek, Ewelina Preizner-Rzucidło, Joanna Kwinta-Rybicka, Mateusz Jagła, Jerzy B Starzyk","doi":"10.1155/crpe/1394105","DOIUrl":null,"url":null,"abstract":"<p><p>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 <i>GATA3</i> 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.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2025 ","pages":"1394105"},"PeriodicalIF":0.5000,"publicationDate":"2025-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12271702/pdf/","citationCount":"0","resultStr":"{\"title\":\"Severe Hypocalcemia Dependent on Fluconazole in a Newborn With Barakat Syndrome.\",\"authors\":\"Dorota Roztoczyńska, Anna Wędrychowicz, Magdalena Ossowska, Aleksandra Furtak, Paulina Miśkiewicz-Stanek, Ewelina Preizner-Rzucidło, Joanna Kwinta-Rybicka, Mateusz Jagła, Jerzy B Starzyk\",\"doi\":\"10.1155/crpe/1394105\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>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 <i>GATA3</i> 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.</p>\",\"PeriodicalId\":9623,\"journal\":{\"name\":\"Case Reports in Pediatrics\",\"volume\":\"2025 \",\"pages\":\"1394105\"},\"PeriodicalIF\":0.5000,\"publicationDate\":\"2025-07-10\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12271702/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Case Reports in Pediatrics\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1155/crpe/1394105\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2025/1/1 0:00:00\",\"PubModel\":\"eCollection\",\"JCR\":\"Q4\",\"JCRName\":\"PEDIATRICS\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Case Reports in Pediatrics","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1155/crpe/1394105","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2025/1/1 0:00:00","PubModel":"eCollection","JCR":"Q4","JCRName":"PEDIATRICS","Score":null,"Total":0}
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.