TY - JOUR
T1 - Congenital analbuminaemia: biochemical and clinical implications. A case report and literature review
AU - Koot, Bart G. P.
AU - Houwen, Roderick
AU - Pot, Dirk-Jan
AU - Nauta, Jeroen
PY - 2004
Y1 - 2004
N2 - 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
AB - 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
U2 - https://doi.org/10.1007/s00431-004-1492-z
DO - https://doi.org/10.1007/s00431-004-1492-z
M3 - Article
C2 - 15300429
SN - 0340-6199
VL - 163
SP - 664
EP - 670
JO - European journal of pediatrics
JF - European journal of pediatrics
IS - 11
ER -