The Wolfram-like syndrome: a case report

a 2016

The Wolfram-like syndrome: a case report

KONEČNÁ, Petra, Dagmar PROCHÁZKOVÁ, Zdeněk DOLEŽEL, Jarmila SKOTÁKOVÁ, Lenka FAJKUSOVÁ et. al.

Základní údaje

Originální název

The Wolfram-like syndrome: a case report

Autoři

KONEČNÁ, Petra, Dagmar PROCHÁZKOVÁ, Zdeněk DOLEŽEL, Jarmila SKOTÁKOVÁ a Lenka FAJKUSOVÁ

Vydání

42 Annual Meeting of the International Society for Pediatric and Adolescent Diabetes(ISPAD), 26-29 October,2016, Valencia, Spain, in Pediatric Diabetes 2016,17(suppl.24) s.76-77, 2016

Další údaje

Jazyk

angličtina

Typ výsledku

Konferenční abstrakt

Obor

30209 Paediatrics

Stát vydavatele

Spojené státy

Utajení

není předmětem státního či obchodního tajemství

Odkazy

URL

Impakt faktor

Impact factor: 4.267

Organizační jednotka

Lékařská fakulta

ISSN

DOI

http://dx.doi.org/10.111/pedi.12451

Klíčová slova česky

Wolfram-like syndrom

Klíčová slova anglicky

Wolfram-like syndrome

Změněno: 10. 11. 2016 13:39, doc. MUDr. Dagmar Procházková, Ph.D.

Anotace

V originále

The Wolfram syndrome (WFS, OMIM 222300) is a rare genetic disease with a prevalence of cca 1:710 000 .The disease is also known as the DIDMOAD syndrome (Diabetes Insipidus, early-onset Diabetes Mellitus, progressive Optic Atrophy and Deafness). Most of the individuals afflicted by this disease have the recessive mutation in the Wolfram syndrome gene 1 (WFS1, 4p16.3), rarely in the Wolfram syndrome gene 2 (WFS2). What is more, a dominant mutation in the WFS1 gene was described in connection with sensorineural hearing loss, deafness and optic atrophy: Wolfram-like syndrome, WFSL. At present the disease ranks among the so-called the endoplasmic reticulum diseases. In the past many times loss of function mutations were described in WFS1 patients but in some patients there was no mutation in the WFS1. Variable clinical symptoms, rare occurrence and molecular complexity complicate diagnosis and the genotype-phenotype correlation of the disease. Survival of the afflicted individuals is shortened also due to other handicaps, such as respiratory failure, aspiration of food, neurological problems (brain atrophy, nystagmus, dysarthria, motor clumsiness, vertigo, spastic paraplegia, mental handicap), psychiatric symptoms (depression, suicidal tendencies, self-destructive behaviour, ADHD), sensorineural deafness, disorders of kidneys and the urinary tract.

Citovat

KONEČNÁ, Petra, Dagmar PROCHÁZKOVÁ, Zdeněk DOLEŽEL, Jarmila SKOTÁKOVÁ a Lenka FAJKUSOVÁ. The Wolfram-like syndrome: a case report. In 42 Annual Meeting of the International Society for Pediatric and Adolescent Diabetes(ISPAD), 26-29 October,2016, Valencia, Spain, in Pediatric Diabetes 2016,17(suppl.24) s.76-77. 2016. ISSN 1399-5448. Dostupné z: https://dx.doi.org/10.111/pedi.12451.

@proceedings{1359746,
   author = {Konečná, Petra and Procházková, Dagmar and Doležel, Zdeněk and Skotáková, Jarmila and Fajkusová, Lenka},
   booktitle = {42 Annual Meeting of the International Society for Pediatric and Adolescent Diabetes(ISPAD), 26-29 October,2016, Valencia, Spain, in Pediatric Diabetes 2016,17(suppl.24) s.76-77},
   doi = {http://dx.doi.org/10.111/pedi.12451},
   keywords = {Wolfram-like syndrome},
   language = {eng},
   title = {The Wolfram-like syndrome: a case report},
   url = {http://willeyonlinelibrary.com/journal/pedi},
   year = {2016}
}

TY  - CONF
ID  - 1359746
AU  - Konečná, Petra - Procházková, Dagmar - Doležel, Zdeněk - Skotáková, Jarmila - Fajkusová, Lenka
PY  - 2016
TI  - The Wolfram-like syndrome: a case report
KW  - Wolfram-like syndrome
UR  - http://willeyonlinelibrary.com/journal/pedi
N2  - The Wolfram syndrome (WFS, OMIM 222300) is a rare genetic disease with a prevalence of cca 1:710 000 .The disease is also known as the DIDMOAD syndrome (Diabetes Insipidus, early-onset Diabetes Mellitus, progressive Optic Atrophy and Deafness). Most of the individuals afflicted by this disease have the recessive mutation in the Wolfram syndrome gene 1 (WFS1, 4p16.3), rarely in the Wolfram syndrome gene 2 (WFS2). What is more, a dominant mutation in the WFS1 gene was described in connection with sensorineural hearing loss, deafness and optic atrophy: Wolfram-like syndrome, WFSL. At present the disease ranks among the so-called the endoplasmic reticulum diseases. In the past many times loss of function mutations were described in WFS1 patients but in some patients there was no mutation in the WFS1. Variable clinical symptoms, rare occurrence and molecular complexity complicate diagnosis and the genotype-phenotype correlation of the disease. Survival of the afflicted individuals is shortened also due to other handicaps, such as respiratory failure, aspiration of food, neurological problems (brain atrophy, nystagmus, dysarthria, motor clumsiness, vertigo, spastic paraplegia, mental handicap), psychiatric symptoms (depression, suicidal tendencies, self-destructive behaviour, ADHD), sensorineural deafness, disorders of kidneys and the urinary tract.
ER  -

KONEČNÁ, Petra, Dagmar PROCHÁZKOVÁ, Zdeněk DOLEŽEL, Jarmila SKOTÁKOVÁ a Lenka FAJKUSOVÁ. The Wolfram-like syndrome: a case report. In \textit{42 Annual Meeting of the International Society for Pediatric and Adolescent Diabetes(ISPAD), 26-29 October,2016, Valencia, Spain, in Pediatric Diabetes 2016,17(suppl.24) s.76-77}. 2016. ISSN~1399-5448. Dostupné z: https://dx.doi.org/10.111/pedi.12451.

Podrobný výpis o publikaci