Hydrops fetalis / iron

Hydrops fetalis / iron

Of course the recent findings of four times the increased rate of
premature birth by iron supplementation ISN'T .. associated WITH ..
this 'remarkable' .. finding ..

For sure ..

<<snip>>
high ferritin levels in both patients was remarkable
<<snip>>

Congenital Disorder of Glycosylation type Ia presenting with hydrops
fetalis.
van de Kamp JM, Lefeber DJ, Ruijter GJ, Steggerda SJ, den Hollander NS,
Willems SM, Matthijs G, Poorthuis BJ, Wevers RA
J Med Genet. 2006 Dec 8;

There is a growing awareness that inborn errors of metabolism can be a
cause of non-immune hydrops fetalis. The association between Congenital
Disorders of Glycosylation (CDG) and hydrops fetalis has been based on
one case report concerning two sibs with hydrops fetalis and CDG-Ik.
Since then two patients with hydrops-like features and CDG-Ia have been
reported. We report on two more unrelated patients with CDG-Ia who
presented with hydrops fetalis, providing definite evidence that
non-immune hydrops fetalis can be caused by CDG-Ia. The presence of
congenital thrombocytopenia and high ferritin levels in both patients
was remarkable. These might be common features in this severe form of
CDG. Both patients had one severe mutation in the PMM2 gene probably
fully inactivating the enzyme and one milder mutation with residual
activity as had the patients reported in literature. The presence of
one severe mutation might be required for the development of hydrops
fetalis. CDG-Ia should be considered in the differential diagnosis of
hydrops fetalis and analysis of PMM activity in chorionic villi or
amniocytes should be considered.


Abstract · PubMed FullText · SFX · GS Clip Export InterDB ·
Terms Related · Graph Tag · Scopus · Cites 10.1136/jmg.2006.044735



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