Anti-ALMS1 polyclonal antibody

Introduction: Alstrom Syndrome is a rare disease caused by mutations in ALMS1 gene. It is characterized by a progressive degeneration of sensory functions, resulting in visual and audiological impairment, as well as metabolic disturbances such as childhood obesity, hyperinsulinemia, and diabetes mellitus type 2. Objective: To report and discuss the genetic and audiological findings in two siblings with Alstrom syndrome. Methods: This was a prospective, analytical and descriptive study, using questionnaires, serial audiograms, otoacoustic emissions, and auditory brainstem response analysis, as well as molecular genetic analysis. Results: Both patients presented childhood-onset bilateral sensorineural hearing loss, which progressed to moderate impairment in the first case and severe hearing loss in the second. Otoacoustic emissions were absent, and auditory brainstem responses were bilaterally normal in both cases. Conclusion: In the present patients, Alstrom Syndrome began with a neurosensory hearing loss in early childhood that progressed to a profound loss in ten to twenty years. The auditory lesions were cochlear in origen according to the otoacoustic emissions and auditory brainstem responses. (C) 2014 Associacao Brasileira de Otorrinolaringologia e Cirurgia Cervico-Facial. Published by Elsevier Editora Ltda. All rights reserved.

Alstrom syndrome is characterized by childhood obesity, progressive retinal degeneration, and sensorineural hearing loss with diabetes mellitus (DM) developing later in childhood and adulthood. The course of diabetes in children with this condition has not been described. We aim to describe the diagnosis, management, and course of diabetes in a series of children followed in our center. A retrospective chart review of all seven children with Alstrom syndrome was performed. Patients, aged 4.5-22 yr, had typical features of Alstrom syndrome. Five were diagnosed with DM at a median age of 11.5 yr. At diagnosis of DM, mean fasting blood glucose (FBG) was normal at 82.8 +/- 12.6 mg/dL (4.6 +/- 0.7 mmol/L), but random or oral glucose tolerance test (OGTT) values were > 200 mg/dL (11.1 mmol/L). Two patients had periods of poor control despite high-dose insulin and show better A1C, off insulin and with other therapy. In our series, DM in Alstrom syndrome begins by age 14 yr. At diagnosis of DM, FBG was normal. Hence the diagnosis may be missed if screening is performed with FBG alone. We conclude that OGTT should be considered annually from age 6 to 7 yr and in established DM, if glycemic control is poor on insulin, escalating doses may not be effective.