Diabetes Mellitus in a Japanese Girl with HDR Syndrome and GATA3 Mutation

We report on a Japanese girl with HDR (hypoparathyroidism, sensorineural deafness, and renal dysplasia) syndrome who developed diabetes mellitus (DM) at three years of age (blood glucose 713 mg/dL, HbA1c 8.0%) in the absence of anti-glutamic acid decarboxylase autoantibodies. Mutation analysis revea...

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Veröffentlicht in:	Endocrine Journal 2010, Vol.57(2), pp.171-174
Hauptverfasser:	MUROYA, Koji, MOCHIZUKI, Takahiro, FUKAMI, Maki, ISO, Manami, FUJITA, Keinosuke, ITAKURA, Mitsuo, OGATA, Tsutomu
Format:	Artikel
Sprache:	eng
Schlagworte:	Animals Asian Continental Ancestry Group Child Child, Preschool Diabetes mellitus Diabetes Mellitus - genetics Expression Female GATA3 GATA3 Transcription Factor - genetics HDR syndrome Hearing Loss, Sensorineural - genetics Humans Hypoparathyroidism - genetics In Situ Hybridization Infant Kidney Diseases, Cystic - genetics Mice Sequence Deletion Syndrome
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