New Alstrom syndrome phenotypes based on the evaluation of 182 cases

Marshall, Jan D.; Bronson, Roderick T.; Collin, Gayle B.; Nordstrom, Anne D.; Maffei, Pietro; Paisey, Richard B.; Carey, Catherine; MacDermott, Seamus; Russell-Eggitt, Isabelle; Shea, Sarah E.; Davis, Judy; Beck, Sebastian; Shatirishvili, Gocha; Mihai, Cristina Maria; Hoeltzenbein, Maria; Pozzan, Giovanni Battista; Hopkinson, Ian; Sicolo, Nicola; Naggert, Juergen K.; Nishina, Patsy M.

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New Alstrom syndrome phenotypes based on the evaluation of 182 cases

Marshall, J. D., Bronson, R. T., Collin, G. B., Nordstrom, A. D., Maffei, P., Paisey, R. B., et al. (2005). New Alstrom syndrome phenotypes based on the evaluation of 182 cases. Archives of Internal Medicine, 165(6), 675-683.

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Item Permalink: https://hdl.handle.net/11858/00-001M-0000-0010-86C3-7 Version Permalink: https://hdl.handle.net/11858/00-001M-0000-0010-86C4-5

Genre: Journal Article

Alternative Title : Arch Intern Med.

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Marshall, Jan D., Author
Bronson, Roderick T., Author
Collin, Gayle B., Author
Nordstrom, Anne D., Author
Maffei, Pietro, Author
Paisey, Richard B., Author
Carey, Catherine, Author
MacDermott, Seamus, Author
Russell-Eggitt, Isabelle, Author
Shea, Sarah E., Author
Davis, Judy, Author
Beck, Sebastian, Author
Shatirishvili, Gocha, Author
Mihai, Cristina Maria, Author
Hoeltzenbein, Maria¹, Author
Pozzan, Giovanni Battista, Author
Hopkinson, Ian, Author
Sicolo, Nicola, Author
Naggert, Juergen K., Author
Nishina, Patsy M., Author

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1Max Planck Society, ou_persistent13

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Abstract: Alström syndrome is a recessively inherited genetic disorder characterized by congenital retinal dystrophy that leads to blindness, hearing impairment, childhood obesity, insulin resistance, and type 2 diabetes mellitus. We provide new details on cardiologic, hepatic, gastrointestinal, urologic, pulmonary, and neurobehavioral phenotypes in Alström syndrome and describe the histopathologic findings in 5 individuals. We obtained data on 182 patients from clinical examinations, medical record reviews, standardized questionnaires, and personal interviews with physicians and parents. Dilated cardiomyopathy occurred in 60% of patients. Age at onset was either during infancy, often before vision disturbances were noted, or in adolescence or adulthood. There is a risk of recurrence of infantile cardiomyopathy. Hyperinsulinemia (92%) developed in early childhood and progressed to type 2 diabetes mellitus in 82% of those older than 16 years. Hypertriglyceridemia (54%) precipitated pancreatitis in 8 patients. Urologic dysfunction and gastrointestinal disturbances occurred in 48% and 35% of patients, respectively. Fifty-three percent of patients had persistent pulmonary symptoms. Neurologic symptoms in 20% of patients included clonic tic and absence seizures. Developmental motor or language delays were observed in 46% of patients. Fibrotic infiltrations of multiple organs, that is, kidney, heart, liver, lung, urinary bladder, gonads, and pancreas, were observed. The wide-ranging and complex spectrum of phenotypes reported herein broadens those previously described for Alström syndrome. These findings will aid physicians in making an early and accurate diagnosis and will help effect appropriate monitoring and treatment.

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Language(s): eng - English

Dates: Date issued: 2005-03-01

Publication Status: Issued

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Identifiers: eDoc: 271276

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Title: Archives of Internal Medicine

Alternative Title : Arch Intern Med.

Source Genre: Journal

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Pages: - Volume / Issue: 165 (6) Sequence Number: - Start / End Page: 675 - 683 Identifier: ISSN: 0003-9926