Başak Kaya, Hasan Akduman, Dilek Dilli, Cem Geyik, Ayşe Karaman, Berna Uçan, Özkan Kaya, Seda Aydoğan, Ayşegül Zenciroğlu
{"title":"特发性肥厚性幽门狭窄新生儿中发现的罕见疾病和综合征","authors":"Başak Kaya, Hasan Akduman, Dilek Dilli, Cem Geyik, Ayşe Karaman, Berna Uçan, Özkan Kaya, Seda Aydoğan, Ayşegül Zenciroğlu","doi":"10.1055/a-2410-5830","DOIUrl":null,"url":null,"abstract":"<p><strong>Aim: </strong> Although infantile hypertrophic pyloric stenosis is a multifactorial disease caused by genetic and environmental factors, the role of genetic factors has become more important recently. With this study, we aimed to present rare diseases accompanying infantile hypertrophic pyloric stenosis caused by genetic factors.</p><p><strong>Patients and methods: </strong> This is a retrospective study. Babies who were operated on with the diagnosis of infantile hypertrophic pyloric stenosis in the neonatal intensive care unit between 2000 and 2022 and had additional diseases were included in the study.</p><p><strong>Results: </strong> 9.8% of patients diagnosed with infantile hypertrophic pyloric stenosis had an accompanying rare disease.</p><p><strong>Conclusion: </strong> Early diagnosis and treatment of rare diseases associated with infantile hypertrophic pyloric stenosis are of great importance in reducing morbidity/mortality due to these diseases.</p>","PeriodicalId":23854,"journal":{"name":"Zeitschrift fur Geburtshilfe und Neonatologie","volume":null,"pages":null},"PeriodicalIF":0.7000,"publicationDate":"2024-10-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Rare Diseases and Syndromes Observed in Newborn Babies with Idiopathic Hypertrophic Pyloric Stenosis.\",\"authors\":\"Başak Kaya, Hasan Akduman, Dilek Dilli, Cem Geyik, Ayşe Karaman, Berna Uçan, Özkan Kaya, Seda Aydoğan, Ayşegül Zenciroğlu\",\"doi\":\"10.1055/a-2410-5830\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Aim: </strong> Although infantile hypertrophic pyloric stenosis is a multifactorial disease caused by genetic and environmental factors, the role of genetic factors has become more important recently. With this study, we aimed to present rare diseases accompanying infantile hypertrophic pyloric stenosis caused by genetic factors.</p><p><strong>Patients and methods: </strong> This is a retrospective study. Babies who were operated on with the diagnosis of infantile hypertrophic pyloric stenosis in the neonatal intensive care unit between 2000 and 2022 and had additional diseases were included in the study.</p><p><strong>Results: </strong> 9.8% of patients diagnosed with infantile hypertrophic pyloric stenosis had an accompanying rare disease.</p><p><strong>Conclusion: </strong> Early diagnosis and treatment of rare diseases associated with infantile hypertrophic pyloric stenosis are of great importance in reducing morbidity/mortality due to these diseases.</p>\",\"PeriodicalId\":23854,\"journal\":{\"name\":\"Zeitschrift fur Geburtshilfe und Neonatologie\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":0.7000,\"publicationDate\":\"2024-10-09\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Zeitschrift fur Geburtshilfe und Neonatologie\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1055/a-2410-5830\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"OBSTETRICS & GYNECOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Zeitschrift fur Geburtshilfe und Neonatologie","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1055/a-2410-5830","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"OBSTETRICS & GYNECOLOGY","Score":null,"Total":0}
Rare Diseases and Syndromes Observed in Newborn Babies with Idiopathic Hypertrophic Pyloric Stenosis.
Aim: Although infantile hypertrophic pyloric stenosis is a multifactorial disease caused by genetic and environmental factors, the role of genetic factors has become more important recently. With this study, we aimed to present rare diseases accompanying infantile hypertrophic pyloric stenosis caused by genetic factors.
Patients and methods: This is a retrospective study. Babies who were operated on with the diagnosis of infantile hypertrophic pyloric stenosis in the neonatal intensive care unit between 2000 and 2022 and had additional diseases were included in the study.
Results: 9.8% of patients diagnosed with infantile hypertrophic pyloric stenosis had an accompanying rare disease.
Conclusion: Early diagnosis and treatment of rare diseases associated with infantile hypertrophic pyloric stenosis are of great importance in reducing morbidity/mortality due to these diseases.
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