Alstrom syndrome in two siblings

Journal of the Formosan Medical Association

Volumn 100, Issue 1, 2001, Pages 45-49

  Hung, Y J ^a   Jeng, C ^a   Pei, D ^a   Chou, P I ^a   Wu, D A ^a  

^a TRI SERVICE GENERAL HOSPITAL   (Taiwan)

Author keywords

Acanthosis nigricans; Alstrom syndrome; Insulin resistance; Neusensory deafness; Retinal degeneration

Indexed keywords

C PEPTIDE; INSULIN; LEPTIN; SOMATOSTATIN;

ACANTHOSIS NIGRICANS; ALSTROM SYNDROME; ARTICLE; AUDIOMETRY; AUTOSOMAL RECESSIVE DISORDER; AXILLA; BIOCHEMISTRY; BLINDNESS; CASE REPORT; CHILD; DIABETES MELLITUS; DISEASE COURSE; DYSLIPIDEMIA; ELECTRORETINOGRAPHY; ENDOCRINE DISEASE; FEMALE; HUMAN; IMPAIRED GLUCOSE TOLERANCE; INGUINAL REGION; INSULIN RESISTANCE; LIVER DYSFUNCTION; MALE; NECK; OBESITY; ORAL GLUCOSE TOLERANCE TEST; PERCEPTION DEAFNESS; PIGMENT EPITHELIUM; RETINA CONE; RETINA DEGENERATION; RETINA ROD; SIBLING; SYMPTOM; VISUAL IMPAIRMENT;

ACANTHOSIS NIGRICANS; CHILD; DEAFNESS; FEMALE; HUMANS; INSULIN RESISTANCE; LEPTIN; LIVER DISEASES; MALE; RETINAL DEGENERATION; SYNDROME;

EID: 0035099346     PISSN: 09296646     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (24)

1. Retinal degeneration combined with obesity, diabetes mellitus, and neurogenous deafness. A specific syndrome (not hitherto described) distinct from the Lourence-Moon-Biedl syndrome. A clinical, examination based on a large pedigree
2. The Alstrom syndrome
3. Hepatic dysfunction in Alstrom disease
4. Hepatic dysfunction in two sibs with Alstrom syndrome: Case report and review of the literature
5. Natural history of Alstrom syndrome in early childhood: Onset with dilated cardiomyopathy
6. Report of Expert Committee on the Diagnosis and Classification of Diabetes Mellitus
7. Insulin resistance, glucose intolerance, and hyperinsulinemia. Hypertriglyceridemia versus hypercholesterolemia
8. Assessment of insulin sensitivity in vivo
9. Comparison of impedance to insulin-mediated glucose uptake in normal subjects and in subjects with latent diabetes
10. Insulin resistance in essential hypertension
11. Familial insulin resistance with acanthosis nigricans, acral hypertrophy and muscle cramps
12. Hormone and substrate modulation of plasma triglyceride concentration in primary hypertriglyceridemia
13. Impaired insulin-induced RNA synthesis secondary to a genetically defective insulin receptor
14. Effects of the obese gene product on body weight regulation in ob/ob mice
15. The metabolic significance of leptin in humans: Gender-based difference in relationship to adiposity, insulin sensitivity, and energy expenditure
16. UKPDS20: Plasma leptin, obesity, and plasma insulin in type 2 diabetic subjects
17. Relationship between insulin sensitivity and plasma leptin concentration in lean and obese men
18. Acute and chronic effect of insulin on leptin production in humans
19. Alstrom syndrome: A case misdiagnosed as Bardet-Biedl syndrome
20. Maternally transmitted diabetes and deafness associated with 10.4 kb mitochondrial DNA deletion
21. Growth hormone deficiency in two siblings with Alstrom syndrome
22. Familial insulin resistance diabetes associated with acanthosis nigricans, polycystic ovaries, hypogonadism, pigmentary retinopathy, labyrinthine deafness, and mental retardation
23. Alstrom syndrome: Further evidence of autosomal recessive inheritance and endocrinological dysfunction
24. Homozygosity mapping at Alstrom syndrome to chromosome 2p