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Erschienen in: International Journal of Diabetes in Developing Countries 4/2019

05.04.2019 | Case Report

Alstrom syndrome: insulin resistance in young with congestive heart failure

verfasst von: Khushboo Agarwal, Alok Gupta, Dhruv Thakur, Rajat Gupta

Erschienen in: International Journal of Diabetes in Developing Countries | Ausgabe 4/2019

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Abstract

Alstrom Hallgren syndrome is a rare ciliopathy first described in 1959. It is characterised by progressive cone-rod dystrophy leading to blindness, sensorineural hearing loss, childhood obesity and congestive heart failure. Its pathogenesis is related to development of insulin resistance, and type 2 diabetes mellitus. We report a case of a 20-year-old presenting with decompensated heart failure and had been blind since childhood who was eventually diagnosed as Alstrom syndrome based on clinical criteria.
Literatur
2.
Zurück zum Zitat Marshall JD, Beck S, Maffei P, Naggert JK. Alström syndrome. Eur J Hum Genet. 2007;15:1193–202.CrossRef Marshall JD, Beck S, Maffei P, Naggert JK. Alström syndrome. Eur J Hum Genet. 2007;15:1193–202.CrossRef
3.
Zurück zum Zitat Alstrom CH, Hallgren B, Nilsson LB, Asander H. Retinal degeneration combined with obesity, diabetes mellitus and neurogenous deafness: a specific syndrome (not hitherto described) distinct from the Laurence-Moon-Biedl syndrome. A clinical endocrinological and genetic examination based on a large pedigree. Acta Psychiatr Neurol Scand. 1959;34(suppl. 129):1–35. Alstrom CH, Hallgren B, Nilsson LB, Asander H. Retinal degeneration combined with obesity, diabetes mellitus and neurogenous deafness: a specific syndrome (not hitherto described) distinct from the Laurence-Moon-Biedl syndrome. A clinical endocrinological and genetic examination based on a large pedigree. Acta Psychiatr Neurol Scand. 1959;34(suppl. 129):1–35.
5.
Zurück zum Zitat Marshall JD, Paisey RB, Carey C, et al. Alström syndrome. 2003 Feb 7 [updated 2012 May 31]. In: Adam MP, Ardinger HH, Pagon RA, et al. editors. GeneReviews® [Internet] Seattle (WA): University of Washington, Seattle; 1993–2018. Marshall JD, Paisey RB, Carey C, et al. Alström syndrome. 2003 Feb 7 [updated 2012 May 31]. In: Adam MP, Ardinger HH, Pagon RA, et al. editors. GeneReviews® [Internet] Seattle (WA): University of Washington, Seattle; 1993–2018.
6.
Zurück zum Zitat Bond J, Flintoff K, Higgins J, Scott S, Bennet C, Parsons J, et al. The importance of seeking ALMS1 mutations in infants with dilated cardiomyopathy. J Med Genet. 2005;42:e10.CrossRef Bond J, Flintoff K, Higgins J, Scott S, Bennet C, Parsons J, et al. The importance of seeking ALMS1 mutations in infants with dilated cardiomyopathy. J Med Genet. 2005;42:e10.CrossRef
7.
Zurück zum Zitat Marshall JD, Muller J, Collin GB, Milan G, Kingsmore SF, Dinwiddie D, et al. Alström syndrome: mutation spectrum of ALMS1. Hum Mutat. 2015;36(7):660–8.CrossRef Marshall JD, Muller J, Collin GB, Milan G, Kingsmore SF, Dinwiddie D, et al. Alström syndrome: mutation spectrum of ALMS1. Hum Mutat. 2015;36(7):660–8.CrossRef
8.
Zurück zum Zitat Scheinfeldt LB, Biswas S, Madeoy J, Connelly CF, Schadt EE, Akey JM. Population genomic analysis of ALMS1 in humans reveals a surprisingly complex evolutionary history. Mol Biol Evol. 2009;26(6):1357–67.CrossRef Scheinfeldt LB, Biswas S, Madeoy J, Connelly CF, Schadt EE, Akey JM. Population genomic analysis of ALMS1 in humans reveals a surprisingly complex evolutionary history. Mol Biol Evol. 2009;26(6):1357–67.CrossRef
9.
Zurück zum Zitat Hoffman JD, Jacobson Z, Young TL, Marshall JD, Kaplan P. Familial variable expression of dilated cardiomyopathy in Alstrom syndrome: a report of four sibs. Am J Med Genet A. 2005;135:96–8.CrossRef Hoffman JD, Jacobson Z, Young TL, Marshall JD, Kaplan P. Familial variable expression of dilated cardiomyopathy in Alstrom syndrome: a report of four sibs. Am J Med Genet A. 2005;135:96–8.CrossRef
10.
Zurück zum Zitat Duffy AJ, Panait L, Eisenberg D, Bell RL, Roberts KE, Sumpio B. Management of median arcuate ligament syndrome: a new paradigm. Ann Vasc Surg. 2009 Nov-Dec;23(6):778–84.CrossRef Duffy AJ, Panait L, Eisenberg D, Bell RL, Roberts KE, Sumpio B. Management of median arcuate ligament syndrome: a new paradigm. Ann Vasc Surg. 2009 Nov-Dec;23(6):778–84.CrossRef
11.
Zurück zum Zitat Petrella S, Prates JC. Celiac trunk compression syndrome. A review. Int J Morphol. 2006;24(3):429–36.CrossRef Petrella S, Prates JC. Celiac trunk compression syndrome. A review. Int J Morphol. 2006;24(3):429–36.CrossRef
Metadaten
Titel
Alstrom syndrome: insulin resistance in young with congestive heart failure
verfasst von
Khushboo Agarwal
Alok Gupta
Dhruv Thakur
Rajat Gupta
Publikationsdatum
05.04.2019
Verlag
Springer India
Erschienen in
International Journal of Diabetes in Developing Countries / Ausgabe 4/2019
Print ISSN: 0973-3930
Elektronische ISSN: 1998-3832
DOI
https://doi.org/10.1007/s13410-019-00738-x

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