Wolcott- Rallisonov sindrom u sestre i brata albanaca s Kosova (CROSBI ID 581370)
Prilog sa skupa u časopisu | sažetak izlaganja sa skupa | domaća recenzija
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