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

Grishina D.P.

FGBU "Éndokrinologicheskiĭ nauchnyĭ tsentr" Minzdrava RF

Zil'berman L.I.

FGBU "Éndokrinologicheskiĭ nauchnyĭ tsentr" Minzdrava RF

Zakharova E.Iu.

Mediko-geneticheskiĭ tsentr RAMN

Tsygankova P.G.

FGBU "Mediko-geneticheskiĭ nauchnyĭ tsentr RAMN"

Volkov I.É.

Rossiĭskaia detskaia klinicheskaia bol'nitsa, Moskva

Kuraeva T.L.

FGU Éndokrinologicheskiĭ nauchnyĭ tsentr Minzdravsotsrazvitiia Rossiĭskoĭ Federatsii, Moskva

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

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Grishina D.P., Zil'berman L.I., Zakharova E.Iu., Tsygankova P.G., Volkov I.É., Kuraeva T.L.

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Journal: Problems of Endocrinology. 2013;59(1): 18‑22

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To cite this article:

Grishina DP, Zil'berman LI, Zakharova EIu, Tsygankova PG, Volkov IÉ, Kuraeva TL. Early lesion in the urinary system of a patient with DIDMOAD syndrome. Problems of Endocrinology. 2013;59(1):18‑22. (In Russ.)

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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.

Keywords:

DIDMOAD syndrome

Wolfram's syndrome

wolframin gene (Wfs1)

mutation in the Wfs1 gene

lesion in the urinary system

diabetes mellitus

monogenic genetic disorder

Authors:

Grishina D.P.

FGBU "Éndokrinologicheskiĭ nauchnyĭ tsentr" Minzdrava RF

Zil'berman L.I.

FGBU "Éndokrinologicheskiĭ nauchnyĭ tsentr" Minzdrava RF

Zakharova E.Iu.

Mediko-geneticheskiĭ tsentr RAMN

Tsygankova P.G.

FGBU "Mediko-geneticheskiĭ nauchnyĭ tsentr RAMN"

Volkov I.É.

Rossiĭskaia detskaia klinicheskaia bol'nitsa, Moskva

Kuraeva T.L.

FGU Éndokrinologicheskiĭ nauchnyĭ tsentr Minzdravsotsrazvitiia Rossiĭskoĭ Federatsii, Moskva

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