Literature DB >> 10842774

[A further case of analbuminemia].

B Gössi1, D Kleinert, U Gössi.   

Abstract

At routine follow-up a 23-year-old female presented a high erythrocyte sedimentation rate and handicapping lipodystrophy of the lower limbs. Protein electrophoresis showed absence of an albumin peak and the diagnosis of analbuminaemia was therefore proposed. Investigation of family members disclosed that one brother out of a total of four siblings also had analbuminaemia. The hereditary pathway often appears to be autosomalrecessive. Subsequent review of the literature revealed only 28 other observed cases, although today electrophoresis has become a worldwide routine examination. Surprisingly, the almost complete absence of so important a protein as albumin does not trigger disease. The body is able to compensate for the lack of albumins with other proteins. The absence of abumin is typically associated with hyperlipidaemia and lipodystrophy in the female sex.

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Year:  2000        PMID: 10842774

Source DB:  PubMed          Journal:  Schweiz Med Wochenschr        ISSN: 0036-7672


  4 in total

Review 1.  Congenital analbuminaemia: biochemical and clinical implications. A case report and literature review.

Authors:  Bart G P Koot; Roderick Houwen; Dirk-Jan Pot; Jeroen Nauta
Journal:  Eur J Pediatr       Date:  2004-08-06       Impact factor: 3.183

2.  A boy with congenital analbuminemia and steroid-sensitive idiopathic nephrotic syndrome: an experiment of nature.

Authors:  Thomas J Neuhaus; Thomas Stallmach; Agnes Genewein
Journal:  Eur J Pediatr       Date:  2007-10-19       Impact factor: 3.183

3.  Coronary artery bypass surgery in a patient with analbuminemia.

Authors:  Ergun Demirsoy; Gokce Sirin; Emre Ozker
Journal:  Tex Heart Inst J       Date:  2011

Review 4.  [Hemodilution and infusion therapy for hypovolemic shock. Clinical physiological and pharmacological aspects].

Authors:  H A Adams
Journal:  Anaesthesist       Date:  2007-04       Impact factor: 1.041

  4 in total

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