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Wolcott- Rallisonov sindrom u sestre i brata albanaca s Kosova (CROSBI ID 581370)

Prilog sa skupa u časopisu | sažetak izlaganja sa skupa | domaća recenzija

Špehar Uroić, Anita ; Kotori, Vjosa ; Rojnić Putarek, Nataša ; Ellard, Sian ; Dumić, Miroslav Wolcott- Rallisonov sindrom u sestre i brata albanaca s Kosova // Paediatria Croatica. Supplement / Barišić, Ingeborg (ur.). 2010. str. 90-x

Podaci o odgovornosti

Špehar Uroić, Anita ; Kotori, Vjosa ; Rojnić Putarek, Nataša ; Ellard, Sian ; Dumić, Miroslav

hrvatski

Wolcott- Rallisonov sindrom u sestre i brata albanaca s Kosova

Wolcott Rallison syndrome (WRS) caused by mutation in EIF2AK3 gene encoding PERK enzyme is the most common cause of permanent neonatal diabetes mellitus (PNDM) in consanguineous familes and isolated populations.It also includes skeletal abnormalities, liver and renal dysfunction and other inconsistently presented features. We present two siblings WRS patients, Albaniens from Kosovo born to unrelated parents.The older sister was homozygous for R902X mutation of EIF2AK3 gene. Younger brother diagnosed with PNDM and died in hepatic failure suggesting that he have been suffered from WRS as well.Including one previously reported patient from Kosovo (with same homozygous mutation), there are three WRS patients from this small, ethnic very homogenous region suggesting founder effect in this population. We presumed that thyroid hypoplasia with primary subclinical hypothyroidism already reported in two WRS patients and perhaps nipple hypoplasia , symptoms observed in older sister, could also be phenotypic reflection of mutation of pleiotropic EIF2AK3 gene in secretory cells.

Wolcott-Rallisonov sindrom; primarna hipotireoza

nije evidentirano

engleski

Wolcott-Rallison syndrdome in albanian siblings form Kosovo

nije evidentirano

Wolcott-Rallison syndrome; primary hypothyreosis

nije evidentirano

Podaci o prilogu

90-x.

2010.

nije evidentirano

objavljeno

Podaci o matičnoj publikaciji

Paediatria Croatica. Supplement

Barišić, Ingeborg

Zagreb: Denona

1330-724X

Podaci o skupu

IX. kongres Hrvatskog pedijatrijskog društva

poster

06.10.2010-08.10.2010

Požega, Hrvatska

Povezanost rada

Kliničke medicinske znanosti

Indeksiranost