UNLABELLED: 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.
UNLABELLED: 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.
Authors: J P Goulé; G Laine; F Sauger; B Maitrot; A Bouillerot; H Gray; P Blondet; B Dieryck Journal: Ann Biol Clin (Paris) Date: 1976 Impact factor: 0.459
Authors: S Braschi; L Lagrost; E Florentin; C Martin; A Athias; P Gambert; M Krempf; C Lallemant; B Jacotot Journal: Arterioscler Thromb Vasc Biol Date: 1996-03 Impact factor: 8.311
Authors: Johannes Kettunen; Taru Tukiainen; Antti-Pekka Sarin; Alfredo Ortega-Alonso; Emmi Tikkanen; Leo-Pekka Lyytikäinen; Antti J Kangas; Pasi Soininen; Peter Würtz; Kaisa Silander; Danielle M Dick; Richard J Rose; Markku J Savolainen; Jorma Viikari; Mika Kähönen; Terho Lehtimäki; Kirsi H Pietiläinen; Michael Inouye; Mark I McCarthy; Antti Jula; Johan Eriksson; Olli T Raitakari; Veikko Salomaa; Jaakko Kaprio; Marjo-Riitta Järvelin; Leena Peltonen; Markus Perola; Nelson B Freimer; Mika Ala-Korpela; Aarno Palotie; Samuli Ripatti Journal: Nat Genet Date: 2012-01-29 Impact factor: 38.330