تقرير
Ascites in infantile onset type II Sialidosis.
| العنوان: | Ascites in infantile onset type II Sialidosis. |
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| المؤلفون: | Tazi K; Paediatric Department Hôpital Universitaire des Enfants Reine Fabiola, Université Libre de Bruxelles Avenue Jean Joseph Crocq 15, 1020 Brussels Belgium., Guy-Viterbo V; Pediatric Intensive Care Unit Hôpital Universitaire des Enfants Reine Fabiola, Université Libre de Bruxelles Avenue Jean Joseph Crocq 15, 1020 Brussels Belgium., Gheldof A; Center for Medical Genetics Universitair Ziekenhuis Brussel, Vrije Universiteit Brussel Avenue du Laerbeek 101, 1090 Brussels Belgium., Empain A; Nutrition and Metabolic Unit Hôpital Universitaire des Enfants Reine Fabiola, Université Libre de Bruxelles Avenue Jean Joseph Crocq 15, 1020 Brussels Belgium., Paternoster A; Paediatric Department Centre Hospitalier EpiCURA Route de Mons 63, 7301 Hornu Belgium., De Laet C; Nutrition and Metabolic Unit Hôpital Universitaire des Enfants Reine Fabiola, Université Libre de Bruxelles Avenue Jean Joseph Crocq 15, 1020 Brussels Belgium. |
| المصدر: | JIMD reports [JIMD Rep] 2022 Jun 03; Vol. 63 (4), pp. 316-321. Date of Electronic Publication: 2022 Jun 03 (Print Publication: 2022). |
| نوع المنشور: | Case Reports |
| اللغة: | English |
| بيانات الدورية: | Publisher: Wiley Country of Publication: United States NLM ID: 101568557 Publication Model: eCollection Cited Medium: Print ISSN: 2192-8304 (Print) Linking ISSN: 21928304 NLM ISO Abbreviation: JIMD Rep Subsets: PubMed not MEDLINE |
| أسماء مطبوعة: | Publication: 2019- : [Hoboken, NJ] : Wiley Original Publication: Berlin : SSIEM and Springer-Verlag, c2011. |
| مستخلص: | Sialidosis is a rare autosomal-recessive lysosomal storage disease due to mutations in the NEU1 gene leading to a deficit of alpha-n-acetyl neuraminidase and causing aberrant accumulation of sialylated glycoproteins/peptides and oligosaccharides in the lysosomes of various organs and tissues. Type II sialidosis (dysmorphic form) is classified into three subgroups based on the age of onset and the clinical severity: Congenital or neonatal, infantile (onset 0-12 months) and juvenile form (onset 13 months-20 years). We report the case of a 3-year-old boy with sialidosis type II infantile form, who developed a voluminous ascites. To the best of our knowledge, ascites is not described in the infantile form but in the congenital form of the disease. Ascites seems to be of a multifactorial origin regarding our investigations: on the one hand, portal hypertension and on the other hypoalbuminemia maintained by proteinuria secondary to nephrosialidosis. Loss of plasma proteins in the gastrointestinal tract (protein-losing enteropathy) should also be considered in the case of portal hypertension and damages of the reticuloendothelial system. Competing Interests: The author declares that there is no conflict of interest that could be perceived as prejudicing the impartiality of the research reported. (© 2022 The Authors. JIMD Reports published by John Wiley & Sons Ltd on behalf of SSIEM.) |
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| فهرسة مساهمة: | Keywords: ascites; hypoalbuminemia; nephrosialidosis; portal hypertension; protein‐losing enteropathy; type II sialidosis |
| تواريخ الأحداث: | Date Created: 20220713 Latest Revision: 20220716 |
| رمز التحديث: | 20231215 |
| مُعرف محوري في PubMed: | PMC9259393 |
| DOI: | 10.1002/jmd2.12305 |
| PMID: | 35822090 |
| قاعدة البيانات: | MEDLINE |
Full Text Finder | تدمد: | 2192-8304 |
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| DOI: | 10.1002/jmd2.12305 |