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Insulin receptor disorders in Japan
1Second Department of Internal Medicine, Kobe University School of Medicine, Japan.
Diabetes Research and Clinical Practice
|October 1, 1994
Summary
This study summarizes insulin receptor disorders in Japan, detailing primary mutations and autoantibodies. Insulin-like growth factor 1 (IGF-1) showed potential therapeutic benefits for affected patients.
Area of Science:
- Endocrinology
- Genetics
- Metabolic Disorders
Background:
- Insulin receptor disorders are rare genetic or autoimmune conditions affecting glucose metabolism.
- Understanding the clinical spectrum and geographic distribution is crucial for diagnosis and management.
Purpose of the Study:
- To summarize the clinical features of insulin receptor disorders observed in Japan.
- To document the prevalence of different types of insulin resistance syndromes.
Main Methods:
- Review of clinical data from approximately 20 cases with primary insulin receptor mutations.
- Analysis of data from 16 cases with autoantibodies against the insulin receptor.
- Evaluation of treatment response to Insulin-like Growth Factor 1 (IGF-1) in a subset of patients.
Main Results:
- Detailed clinical presentations of type A syndrome of insulin resistance, leprechaunism, and Rabson-Mendenhall syndrome due to primary mutations.
- Characterization of type B syndrome of insulin resistance associated with autoantibodies against the insulin receptor.
- Positive therapeutic response observed with IGF-1 treatment in some patients.
Conclusions:
- Insulin receptor disorders in Japan encompass both genetic mutations and autoimmune forms.
- IGF-1 therapy demonstrates potential utility in managing certain insulin receptor disorders.