Naslov
Wolcott- Rallisonov sindrom u sestre i brata albanaca s Kosova
(Wolcott-Rallison syndrdome in albanian siblings form Kosovo)

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

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, znanstveni

Izvornik
Paediatria Croatica Vol. 54 Suppl 2 / Barišić, Ingeborg - Zagreb : Denona, 2010

Skup
IX. kongres Hrvatskog pedijatrijskog društva

Mjesto i datum
Požega, Hrvatska, 06.10.2010. - 09.10.2010

Vrsta sudjelovanja
Poster

Vrsta recenzije
Domaća recenzija

Ključne riječi
Wolcott-Rallisonov sindrom; primarna hipotireoza
(Wolcott-Rallison syndrome; primary hypothyreosis)

Sažetak
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.

Izvorni jezik
Hrvatski

Znanstvena područja
Kliničke medicinske znanosti

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