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1. 糖尿病および遺伝的糖尿病症候群の分類 classification of diabetes mellitus and genetic diabetic syndromes
2. 中枢性尿崩症の臨床症状および原因 clinical manifestations and causes of central diabetes insipidus
3. 小児における聴覚障害の評価 evaluation of hearing impairment in children
4. 2型糖尿病の病因 pathogenesis of type 2 diabetes mellitus

English Journal

Molecular characterization of WFS1 in an Iranian family with Wolfram syndrome reveals a novel frameshift mutation associated with early symptoms.

Sobhani M, Tabatabaiefar MA, Rajab A, Kajbafzadeh AM, Noori-Daloii MR.SourceDepartment of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran.
Gene.Gene.2013 Oct 10;528(2):309-13. doi: 10.1016/j.gene.2013.06.040. Epub 2013 Jul 8.
Wolfram syndrome (WS) is a rare autosomal recessive neurodegenerative disorder that represents a likely source of childhood diabetes especially among countries in the consanguinity belt. The main responsible gene is WFS1 for which over one hundred mutations have been reported from different ethnic g
PMID 23845777

Identification of one novel causative mutation in exon 4 of WFS1 gene in two Italian siblings with classical DIDMOAD syndrome phenotype.

Rigoli L, Lombardo F, Salzano G, Di Bella C, Messina MF, De Luca F, Iafusco D.SourceDepartment of Pediatrics, University of Messina, Messina, Italy.
Gene.Gene.2013 Sep 10;526(2):487-9. doi: 10.1016/j.gene.2012.10.023. Epub 2012 Oct 26.
The aim of the present paper is to describe a novel missense mutation (G107R) of WFS1 gene that was unexpectedly detected, in two siblings from Southern Italy, outside exon 8; a very unusual finding which has previously been reported only twice in Italian patients with Wolfram syndrome (WS). Althoug
PMID 23103830

EURO-WABB: an EU rare diseases registry for Wolfram syndrome, Alstrom syndrome and Bardet-Biedl syndrome.

Farmer A, Aymé S, de Heredia ML, Maffei P, McCafferty S, M Ynarski W, Nunes V, Parkinson K, Paquis-Flucklinger V, Rohayem J, Sinnott R, Tillman V, Tranebjærg L, Barrett TG.AbstractBACKGROUND: Wolfram, Alstrom and Bardet-Biedl (WABB) syndromes are rare diseases with overlapping features of multiple sensory and metabolic impairments, including diabetes mellitus, which have caused diagnostic confusion. There are as yet no specific treatments available, little or no access to well characterized cohorts of patients, and limited information on the natural history of the diseases. We aim to establish a Europe-wide registry for these diseases to inform patient care and research.
BMC pediatrics.BMC Pediatr.2013 Aug 27;13(1):130. [Epub ahead of print]
BACKGROUND: Wolfram, Alstrom and Bardet-Biedl (WABB) syndromes are rare diseases with overlapping features of multiple sensory and metabolic impairments, including diabetes mellitus, which have caused diagnostic confusion. There are as yet no specific treatments available, little or no access to wel
PMID 23981649

藤巻理沙,岩崎直子,山本弥生,花井豪,佐藤麻子,谷澤幸生,岩本安彦,FUJIMAKI Risa,IWASAKI Naoko,YAMAMOTO Yayoi,HANAI Ko,SATO Asako,TANIZAWA Yukio,IWAMOTO Yasuhiko
東京女子医科大学雑誌 81(E2), E241-E246, 2011-03-31
Wolfram症候群(diabetes insipidus and mellitus with optic atrophy and deafness; DIMOADMIM#222300)は、尿崩症、若年発症の糖尿病と視神経萎縮、感音性難聴を主徴とする常染色体劣性遺伝疾患である. 症例は女性.7歳時に糖尿病と尿崩症と診断され、18歳時当院初診時には視神経萎縮と難聴を、また21歳時に神経因性膀胱を、さ …
NAID 110008441475