Alstrom syndrome diagnostic criteria: Difference between revisions
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Marshall JD et al. provided a comprehensive guidance for diagnostic criteria in their 2007 publication. | Marshall JD et al. provided a comprehensive guidance for diagnostic criteria in their 2007 publication. | ||
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| '''Age Range''' || '''Major Criteria''' || '''Minor Criteria''' || '''Criteria Required''' || '''Other Supportive Features''' | | '''Age Range''' || '''Major Criteria''' || '''Minor Criteria''' || '''Criteria Required''' || '''Other Supportive Features''' | ||
|-style="background:white; color:black" | |-style="background:white; color:black" | ||
| Birth - 2 years || • [[ALMS1]] [[ | | Birth - 2 years || • [[ALMS1]] [[mutation]] in 1 [[allele]] and/or family history of Alström Syndrome | ||
• Vision pathology ([[nystagmus]], [[photophobia]]) | • Vision pathology ([[nystagmus]], [[photophobia]]) | ||
|| • [[Obesity]] | || • [[Obesity]] | ||
• [[Dilated cardiomyopathy]] with [[congestive heart failure]] | • [[Dilated cardiomyopathy]] with [[congestive heart failure]] | ||
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| 3-14 years || • ALMS1 mutation in 1 allele and/or family history of Alström Syndrome | | 3-14 years || • ALMS1 mutation in 1 allele and/or family history of Alström Syndrome | ||
|| • Obesity and/or insulin resistance and/or Type 2 Diabetes | • Vision pathology (nystagmus, photophobia, diminished acuity). If old enough for testing: cone dystrophy by [[electroretinography]] (ERG) | ||
|| • Obesity and/or [[insulin resistance]] and/or Type 2 Diabetes | |||
• History of dilated cardiomyopathy with congestive heart failure | • History of [[dilated cardiomyopathy]] with [[congestive heart failure]] | ||
• Hearing loss | • [[Hearing loss ]] | ||
• Hepatic dysfunction | • [[Liver failure|Hepatic dysfunction]] | ||
• Renal failure | • [[Renal failure]] | ||
• Advanced bone age | • Advanced bone age | ||
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1 major and 3 minor criteria | 1 major and 3 minor criteria | ||
|| Recurrent pulmonary infections, normal digits, delayed developmental milestones, hyperlipidemia, scoliosis, flat wide feet,hypothyroidism, hypertension, recurrent urinary tract infection, growth hormone deficiency | || Recurrent pulmonary infections, normal digits, delayed developmental milestones, [[hyperlipidemia]], [[scoliosis]], flat wide feet, [[hypothyroidism]], [[hypertension]], recurrent [[urinary tract infection]], [[growth hormone deficiency]] | ||
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| 15 years - adulthood || • ALMS1 mutation in 1 allele and/or family history of Alström Syndrome | | 15 years - adulthood || • ALMS1 mutation in 1 allele and/or family history of Alström Syndrome | ||
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• Renal failure | • Renal failure | ||
• Short stature | • [[Short stature]] | ||
• Males: hypogonadism, Females: irregular menses and/or hyperandrogenism | • Males: [[hypogonadism]], Females: irregular menses and/or hyperandrogenism | ||
|| Minimum diagnosis requires 2 major and 2 minor criteria | || Minimum diagnosis requires 2 major and 2 minor criteria | ||
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1 major and 4 minor criteria | 1 major and 4 minor criteria | ||
|| Recurrent pulmonary infections, normal digits, history of developmental delay, hyperlipidemia, scoliosis, flat wide feet, hypothyroidism, hypertension, recurrent urinary tract infections/urinary dysfunction, growth hormone deficiency, alopecia | || Recurrent pulmonary infections, normal digits, history of developmental delay, [[hyperlipidemia]], scoliosis, flat wide feet, hypothyroidism, hypertension, recurrent urinary tract infections/urinary dysfunction, growth hormone deficiency, [[alopecia]] | ||
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==References== | ==References== | ||
{{Reflist|2}} | {{Reflist|2}} | ||
{{WikiDoc Help Menu}} | |||
{{WikiDoc Sources}} | |||
[[CME Category::Cardiology]] | |||
[[Category:Genetic Disease]] | [[Category:Genetic Disease]] | ||
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[[Category:Cardiology]] | [[Category:Cardiology]] | ||
[[Category:Disease]] | [[Category:Disease]] | ||
Latest revision as of 19:56, 14 March 2016
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Alstrom syndrome Microchapters |
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Diagnosis |
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Treatment |
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Case Studies |
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Alstrom syndrome diagnostic criteria On the Web |
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American Roentgen Ray Society Images of Alstrom syndrome diagnostic criteria |
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Risk calculators and risk factors for Alstrom syndrome diagnostic criteria |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1], Associate Editor(s)-in-Chief: Aarti Narayan, M.B.B.S [2]; Raviteja Guddeti, M.B.B.S. [3]
Overview
It is possible to clinically detect Alström syndrome in infancy, but more frequently, it is detected much later, as doctors tend to detect symptoms as separate problems. Currently, Alström syndrome is only diagnosed clinically, since genetic testing is still rare and only available on a limited basis.
Diagnostic Criteria
Marshall JD et al. provided a comprehensive guidance for diagnostic criteria in their 2007 publication.
| Age Range | Major Criteria | Minor Criteria | Criteria Required | Other Supportive Features |
| Birth - 2 years | • ALMS1 mutation in 1 allele and/or family history of Alström Syndrome
• Vision pathology (nystagmus, photophobia) |
• Obesity | Minimum diagnosis requires 2 major criteria
OR 1 major and 2 minor criteria |
Recurrent pulmonary infections, normal digits, delayed developmental milestones |
| 3-14 years | • ALMS1 mutation in 1 allele and/or family history of Alström Syndrome
• Vision pathology (nystagmus, photophobia, diminished acuity). If old enough for testing: cone dystrophy by electroretinography (ERG) |
• Obesity and/or insulin resistance and/or Type 2 Diabetes
• History of dilated cardiomyopathy with congestive heart failure • Advanced bone age |
Minimum diagnosis requires 2 major criteria
OR 1 major and 3 minor criteria |
Recurrent pulmonary infections, normal digits, delayed developmental milestones, hyperlipidemia, scoliosis, flat wide feet, hypothyroidism, hypertension, recurrent urinary tract infection, growth hormone deficiency |
| 15 years - adulthood | • ALMS1 mutation in 1 allele and/or family history of Alström Syndrome
• Vision pathology (history of nystagmus in infancy/childhood, legal blindness, cone and rod dystrophy by ERG) |
• Obesity and/or insulin resistance and/or Type 2 Diabetes
• History of dilated cardiomyopathy with congestive heart failure • Hearing loss • Hepatic dysfunction • Renal failure • Males: hypogonadism, Females: irregular menses and/or hyperandrogenism |
Minimum diagnosis requires 2 major and 2 minor criteria
OR 1 major and 4 minor criteria |
Recurrent pulmonary infections, normal digits, history of developmental delay, hyperlipidemia, scoliosis, flat wide feet, hypothyroidism, hypertension, recurrent urinary tract infections/urinary dysfunction, growth hormone deficiency, alopecia |