| Congenital analbuminaemia: biochemical and clinical implications. A case report and literature review. | |
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MedLine Citation:
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PMID: 15300429 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Congenital analbuminaemia was diagnosed in a small-for-gestational-age neonate presenting with placental and body oedema, an unusual presentation of this rare autosomal recessive disorder. A review of 39 reported cases in the literature shows that the clinical symptoms are always remarkably mild and that the diagnosis is rarely made in infancy. The absence of albumin appears to be partly counterbalanced by high levels of non-albumin proteins and circulatory adaptations. However, congenital analbuminemia can have important complications: lipodystrophy and hypercholesterolaemia, possibly leading to atherosclerosis. Other possible complications reported in literature are hypercoagulability, osteoporosis, respiratory tract infections, intrauterine growth retardation and intrauterine death. Moreover, albumin-binding drugs should be used with caution. CONCLUSION: Congenital analbuminaemia is a rare disorder with remarkably mild signs and symptoms at all ages. Although often thought to be innocent, this disorder may have important clinical complications. |
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Authors:
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Bart G P Koot; Roderick Houwen; Dirk-Jan Pot; Jeroen Nauta |
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Publication Detail:
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Type: Case Reports; Journal Article; Review Date: 2004-08-06 |
Journal Detail:
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Title: European journal of pediatrics Volume: 163 ISSN: 0340-6199 ISO Abbreviation: Eur. J. Pediatr. Publication Date: 2004 Nov |
Date Detail:
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Created Date: 2004-10-25 Completed Date: 2005-03-01 Revised Date: 2005-11-16 |
Medline Journal Info:
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Nlm Unique ID: 7603873 Medline TA: Eur J Pediatr Country: Germany |
Other Details:
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Languages: eng Pagination: 664-70 Citation Subset: IM |
Affiliation:
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Department of Paediatrics, St. Franciscus Gasthuis and Erasmus MC, Sophia Children's Hospital, Rotterdam, The Netherlands, b.g.koot@amc.uva.nl |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adult Chorionic Villi / pathology* Edema / genetics* Female Humans Infant, Newborn Infant, Small for Gestational Age Placenta / pathology* Serum Albumin / analysis, deficiency*, genetics |
| Chemical | |
Reg. No./Substance:
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0/Serum Albumin |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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