Early lesion in the urinary system of a patient with DIDMOAD syndrome | Zendy

D. P. Grishina | Zendy; L. I. Zilberman | Zendy; Е. Ю. Захарова | Zendy; Polina G. Tsygankova | Zendy; И Э Волков | Zendy; Тамара Леонидовна Кураева | Zendy

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Early lesion in the urinary system of a patient with DIDMOAD syndrome

Author(s) -

D. P. Grishina,

L. I. Zilberman,

Е. Ю. Захарова,

Polina G. Tsygankova,

И Э Волков,

Тамара Леонидовна Кураева

Publication year - 2013

Publication title -

problems of endocrinology

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.124

H-Index - 5

eISSN - 2308-1430

pISSN - 0375-9660

DOI - 10.14341/probl201359118-22

Subject(s) - missense mutation , anamnesis , exon , girl , lesion , urinary system , medicine , mutation , disease , genetics , gene , pediatrics , pathology , biology

The authors present a case report of DIDMOAD syndrome in a girl accompanied by the early development of a severe lesion in the urinary system. The molecular-genetic analysis of the Wfs1 gene revealed thhec.1009A>C,p.T337P missense mutation in exon 8 in the homozygous state. The brother of the patient developed diabetes mellitus that for the first time manifested itself at the age of 6 years. The molecular-genetic study of the boy undertaken bearing in mind his genetically aggravated anamnesis revealed the analogous mutation; this finding maybe used to predict further development of the disease.

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