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Summary
HYDROPS FETALIS, NON IMMUNE
HYDROPS FETALIS, IDIOPATHIC
236750
OMIM = Online Medalian Inheritance of Men
363999
  • no specific treatment
  • supportive/symptomatic therapy
> 500 cases reported in the literature diseases
multifactorial, excessive accumulation of fetal fluid
associated with hydrops fetalis (Stephenson 1994): idiopathic, congenital heart disease, chromosomal defects (Turner, Down syndrome), birth defects, malformations, congenital neuroblastoma, infections, metabolic disorders (Mucopolysaccharidosis I-H/IV/VII,G(M1)-Gangliosidosis type 1, Galactosialidosis, Gaucher disease type II, Glycogenosis type II, Niemann-Pick disease type C)
symptoms
anemia
early death
edema
heart failure
hepatomegaly (large liver)
hydrops fetalis
onset, fetus
peritoneal effusions
pleural effusions
splenomegaly (large spleen)
laboratory finding
Hemoglobine decreasedblood
Literature
Benkert AR,et al.Severe Salt-Losing 3+¦-Hydroxysteroid Dehydrogenase Deficiency: Treatment and Outcomes of HSD3B2 c.35G>A HomozygotesJ Clin Endocrinol Metab10081105-11152015
Burckhardt MA,et al.Human 3+¦-hydroxysteroid dehydrogenase deficiency seems to affect fertility but may not harbor a tumor risk: lesson from an experiment of natureEur J Endocrinol1735K1-K122015
Sweetman LOrganic acid analysisTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York00143-1761991
Preiss Y,et al.Cerebrotendinous xanthomatosis: physiopathology, clinical manifestations and geneticsRev Med Chil Article in Spanish1425616-6222014
Thomas JL,Bose HSRegulation of human 3-beta-hydroxysteroid dehydrogenase type-2 (3+-ªHSD2) by molecular chaperones and the mitochondrial environment affects steroidogenesisJ Steroid Biochem Mol Biol151074-782015
Lionnet C,et al.Cerebrotendinous xanthomatosis: a multicentric retrospective study of 15 adults, clinical and paraclinical typical and atypical aspectsRev Neurol (Paris) Article in French1700445-4532014
Sweetman LOrganic acid analysisTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York00143-1761991