Evaluation of insulin resistant diabetes mellitus in Alström syndrome: a long-term prospective follow-up of three siblings

Satman, İlhan; Yılmaz, Mehmet; Gürsoy, N; Karşıdağ, Kubilay; Dınççağ, Nevin; Ovali, Tunç; Karadeniz, S.; Uysal, Veli; Buğra, Zehra; Ökten, Atilla; Devrim, S

doi:10.1016/s0168-8227(02)00004-9

Cited by 39 publications

(30 citation statements)

References 15 publications

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“…In the absence of many key features of Alström syndrome, this diagnosis was not evoked prior to the genetic study. Absence of obesity 13,14 and normal adult stature are exceptional in Alström syndrome (Table 1); similarly, insulin-dependent diabetes with ketoacidosis at onset 15 and diabetes insipidus 16 have each been reported in a single patient. The association of these very unusual features makes this case particularly remarkable.…”

Section: Discussionmentioning

confidence: 99%

A novel ALMS1 splice mutation in a non-obese juvenile-onset insulin-dependent syndromic diabetic patient

et al. 2013

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Insulin-dependent juvenile-onset diabetes may occur in the context of rare syndromic presentations suggesting monogenic inheritance rather than common multifactorial autoimmune type 1 diabetes. Here, we report the case of a Lebanese patient diagnosed with juvenile-onset insulin-dependent diabetes presenting ketoacidosis, early-onset retinopathy with optic atrophy, hearing loss, diabetes insipidus, epilepsy, and normal weight and stature, who later developed insulin resistance. Despite similarities with Wolfram syndrome, we excluded the WFS1 gene as responsible for this disease. Using combined linkage and candidate gene study, we selected ALMS1, responsible for Alströ m syndrome, as a candidate gene. We identified a novel splice mutation in intron 18 located 3 bp before the intron-exon junction (IVS18-3T4G), resulting in exon 19 skipping and consequent frameshift generating a truncated protein (V3958fs3964X). The clinical presentation of the patient significantly differed from typical Alströ m syndrome by the absence of truncal obesity and short stature, and by the presence of ketoacidotic insulin-dependent diabetes, optic atrophy and diabetes insipidus. Our observation broadens the clinical spectrum of Alström syndrome and suggests that ALMS1 mutations may be considered in patients who initially present with an acute onset of insulin-dependent diabetes.

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Section: Discussionmentioning

confidence: 99%

A novel ALMS1 splice mutation in a non-obese juvenile-onset insulin-dependent syndromic diabetic patient

et al. 2013

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“…These include Bardet-Biedl and Alströ m syndromes [22,[38][39][40][41][42] and polycystic ovary syndrome [43][44][45]. In the lipodystrophy and lipoatrophy syndromes, which are clinically and genetically heterogeneous, affected individuals typically are thin but get liver disease histologically equivalent to NAFLD.…”

Section: Pediatric Nafld With Genetic/metabolic Diseasementioning

confidence: 99%

Pediatric nonalcoholic fatty liver disease (NAFLD): A “growing” problem?

Roberts

2007

Journal of Hepatology

158

139

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“…The MRI dynamic study of the kidneys demonstrated an abnormally bright signal intensity of the bilateral corticomedullary junctions and a low signal intensity of the bilateral medullaries on T2/W1 and mild enhancement of the corticomedullary junctions bilaterally on T1/W1 3 min after contrast injection, but less enhancement of the medullaries even 5 min after contrast injection. The MRI dynamic study might have revealed renal histopathological abnormalities [18], but the renal function is normal up to the present. Finally, based on his many typical clinical presentations and laboratory findings, the diagnosis of Alström syndrome with GH deficiency (GHD) was made.…”

Section: Case Reportmentioning

confidence: 99%

Metabolic Effects of Growth Hormone Therapy in an Alström Syndrome Patient

Tai¹,

Lin²,

Sheu³

2003

Horm Res Paediatr

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Aim: To investigate the metabolic effects of recombinant human growth hormone (rhGH) in an Alström syndrome patient with growth hormone deficiency. Methods: A 15-year-old Alström syndrome boy with growth hormone deficiency received rhGH therapy for 1 year. Biochemical parameters, including hepatic enzyme levels, lipid profiles, and insulin sensitivity, were measured. Body composition analysis and computed tomography scans of the liver were performed. Results: After 1 year of rhGH treatment, body fat mass, fat infiltration in the liver, and serum lipid profiles had all decreased. Insulin sensitivity and acanthosis nigricans improved. Conclusion: rhGH therapy might have beneficial effects on body composition, liver fat content, lipid profiles, and insulin resistance in Alström syndrome patients, with improvement of the glucose homeostasis.

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Evaluation of insulin resistant diabetes mellitus in Alström syndrome: a long-term prospective follow-up of three siblings

Cited by 39 publications

References 15 publications

A novel ALMS1 splice mutation in a non-obese juvenile-onset insulin-dependent syndromic diabetic patient

A novel ALMS1 splice mutation in a non-obese juvenile-onset insulin-dependent syndromic diabetic patient

Pediatric nonalcoholic fatty liver disease (NAFLD): A “growing” problem?

Metabolic Effects of Growth Hormone Therapy in an Alström Syndrome Patient

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