Recenzija, Prikaz slučaja

BARTH SYNDROME – X-LINKED CARDIOMYOPATHY WITH NEUTROPENIA

Ivan Malčić ; Klinički bolnički centar Zagreb, Klinika za pedijatriju, Zavod za pedijatrijsku kardiologiju, Zagreb
Marija Vidaković ; Klinički bolnički centar Zagreb, Klinika za pedijatriju, Zavod za pedijatrijsku kardiologiju, Zagreb
Daniel Dilber ; Klinički bolnički centar Zagreb, Klinika za pedijatriju, Zavod za pedijatrijsku kardiologiju, Zagreb
Hrvoje Kniewald ; Klinički bolnički centar Zagreb, Klinika za pedijatriju, Zavod za pedijatrijsku kardiologiju, Zagreb
Dorotea Bartoniček ; Klinički bolnički centar Zagreb, Klinika za pedijatriju, Zavod za pedijatrijsku kardiologiju, Zagreb

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Sažetak

We report on a child with Barth syndrome. The child had a positive family history (X-linked disease) with characteristic clinical symptoms (severe dilated cardiomyopathy, generalized myopathy with hypotonia) and typical biochemical findings, cyclic neutropenia and elevated urinary level of 3-methylglutaconic acid. Molecular analyses identified mutation in the second exon of TAZ gene, p.Arg94His (c.281G>A) mutation. The child is alive and requires cardiac medications: diuretics, ACE inhibitors, digoxin, β-blockers and anticoagulants.

Ključne riječi

Descriptors: BARTH SYNDROME; CARDIOMYOPATHIES; NEUTROPENIA; INFANT

Hrčak ID:

89718

URI

https://hrcak.srce.hr/89718

Datum izdavanja:

17.10.2012.

Podaci na drugim jezicima: hrvatski

Posjeta: 1.335 *