Understanding fetal factors that contribute to preterm birth: Sjogren-Larsson syndrome as a model
| Autor: | Joris van Drongelen, Pippa Staps, Michèl A.A.P. Willemsen, Joris Fuijkschot, Marije Hogeveen |
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| Rok vydání: | 2018 |
| Předmět: |
Pediatrics
medicine.medical_specialty Vascular damage Radboud Institute for Health Sciences [Radboudumc 16] Context (language use) Healthcare improvement science Radboud Institute for Health Sciences [Radboudumc 18] 03 medical and health sciences All institutes and research themes of the Radboud University Medical Center 0302 clinical medicine Humans Medicine Ichthyosis prematurity syndrome Retrospective Studies Fetus 030219 obstetrics & reproductive medicine Sjögren–Larsson syndrome business.industry Other Research Radboud Institute for Health Sciences [Radboudumc 0] Congenital analbuminemia Obstetrics and Gynecology Gestational age Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3] medicine.disease Fetal Diseases Sjogren-Larsson Syndrome Pediatrics Perinatology and Child Health Premature Birth business Osteogenesis Imperfecta Type II Restrictive dermopathy 030217 neurology & neurosurgery |
| Zdroj: | Journal of Perinatal Medicine, 46, 5, pp. 523-529 Journal of Perinatal Medicine, 46, 523-529 |
| ISSN: | 0300-5577 |
| Popis: | Aim: Preterm birth is the world’s leading cause of neonatal death. Unfortunately, the pathophysiology of preterm birth remains poorly understood. Sjögren-Larsson syndrome is a rare, neurometabolic disorder caused by a fatty aldehyde dehydrogenase deficiency. A majority of patients with Sjögren-Larsson syndrome is born preterm. Methods: Data of all known Dutch patients with Sjögren-Larsson syndrome and all cases reported in literature were analyzed to learn from preterm birth in context of this rare disease. Results: Exact gestational age was known in 33 Dutch patients; 24 (73%) of them were born preterm, with a median gestational age of 36 weeks. The literature search confirmed our findings: 13 (59%) of 22 cases was born preterm. Conclusions: Preterm birth is a hallmark of Sjögren-Larsson syndrome, presumably caused by the abnormal lipid metabolism of the fetus. At least five additional rare genetic disorders (namely Ehlers-Danlos syndrome, ichthyosis prematurity syndrome, congenital analbuminemia, osteogenesis imperfecta type II and restrictive dermopathy) were found in literature that lead to preterm birth of the affected fetus. These disorders are in fact “experiments of nature” and as such they shed new lights on the mechanisms causing preterm birth. |
| Databáze: | OpenAIRE |
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