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.


'''Birth - 2 years:'''
{| class="wikitable" border="2"
|-style="background:silver; color:black" align="center"
| '''Age Range''' || '''Major Criteria''' || '''Minor Criteria''' || '''Criteria Required''' || '''Other Supportive Features'''
|-style="background:white; color:black"
| Birth - 2 years || • [[ALMS1]] [[mutation]] in 1 [[allele]] and/or family history of Alström Syndrome


Minimum diagnosis requires 2 major criteria or 1 major and 2 minor criteria.
• Vision pathology ([[nystagmus]], [[photophobia]])
|| • [[Obesity]]


Major criteria are:
• [[Dilated cardiomyopathy]] with [[congestive heart failure]]  
1) [[ALMS1]] [[mutatio]]n in 1 [[allele]] and/or family history of Alström Syndrome
2) Vision pathology ([[nystagmus]], [[photophobia]])


Minor criteria are:
|| Minimum diagnosis requires 2 major criteria  
1) [[Obesity]]
OR
2) [[Dilated cardiomyopathy]] with [[congestive heart failure]]


Other variable supportive evidence:
1 major and 2 minor criteria
Recurrent pulmonary infections, normal digits, delayed developmental milestones.
|| Recurrent pulmonary infections, normal digits, delayed developmental milestones
|-style="background:white; color:black"
| 3-14 years || • ALMS1 mutation in 1 allele and/or family history of Alström Syndrome


'''At 3-14 years of age:'''
• Vision pathology (nystagmus, photophobia, diminished acuity). If old enough for testing: cone dystrophy by [[electroretinography]] (ERG)


2 major criteria or 1 major and 3 minor criteria.
|| • Obesity and/or [[insulin resistance]] and/or Type 2 Diabetes


Major criteria are:
• History of [[dilated cardiomyopathy]] with [[congestive heart failure]]
1) ALMS1 mutation in 1 allele and/or family history of Alström Syndrome,
2) Vision pathology (nystagmus, photophobia, diminished acuity). If old enough for testing: cone dystrophy by electroretinography (ERG).


Minor Criteria:
• [[Hearing loss ]]
1) Obesity and/or insulin resistance and/or Type 2 Diabetes
2) History of dilated cardiomyopathy with congestive heart failure
3) Hearing loss
4) Hepatic dysfunction
5) Renal failure
6) Advanced bone age


Variable supportive evidence:
• [[Liver failure|Hepatic dysfunction]]
Recurrent pulmonary infections, normal digits, delayed developmental milestones, hyperlipidemia, scoliosis, flat wide feet,hypothyroidism, hypertension, recurrent urinary tract infection, growth hormone deficiency.


'''Presentation 15 years - adulthood:'''
• [[Renal failure]]


2 major and 2 minor criteria or 1 major and 4 minor criteria.
• Advanced bone age


Major criteria are:
|| Minimum diagnosis requires 2 major criteria  
1) ALMS1 mutation in 1 allele and/or family history of Alström Syndrome.
2) Vision pathology (history of nystagmus in infancy/childhood, legal blindness, cone and rod dystrophy by ERG).


Minor criteria:
OR
1) Obesity and/or insulin resistance and/or Type 2 Diabetes
2) History of dilated cardiomyopathy with congestive heart failure.
3) Hearing loss
4) Hepatic dysfunction
5) Renal failure
6) Short stature
7) Males: hypogonadism, Females: irregular menses and/or hyperandrogenism


Other supportive features:
1 major and 3 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, delayed developmental milestones, [[hyperlipidemia]], [[scoliosis]], flat wide feet, [[hypothyroidism]], [[hypertension]], recurrent [[urinary tract infection]], [[growth hormone deficiency]]
|-style="background:white; color:black"
| 15 years - adulthood || • ALMS1 mutation in 1 allele and/or family history of Alström Syndrome


{| class="wikitable" border="1"
• Vision pathology (history of nystagmus in infancy/childhood, legal blindness, cone and rod dystrophy by ERG)  
|-style="background:silver; color:black" align="center"
 
| '''Age Range''' || '''Major Criteria''' || '''Minor Criteria''' || '''Criteria Required''' || '''Other Supportive Features'''
|| • Obesity and/or insulin resistance and/or Type 2 Diabetes  
|-style="background:white; color:black"
 
| Birth - 2 years || • [[ALMS1]] [[mutatio]]n in 1 [[allele]] and/or family history of Alström Syndrome • Vision pathology ([[nystagmus]], [[photophobia]]) || •[[Obesity]] • [[Dilated cardiomyopathy]] with [[congestive heart failure]] || Minimum diagnosis requires 2 major criteria or 1 major and 2 minor criteria || Recurrent pulmonary infections, normal digits, delayed developmental milestones
• History of dilated cardiomyopathy with congestive heart failure  
|-style="background:white; color:black"
 
| 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 • Hearing loss • Hepatic dysfunction • Renal 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
• Hearing loss  
|-style="background:white; color:black"
 
• Hepatic dysfunction  
 
• Renal failure  
 
• [[Short stature]]
 
• Males: [[hypogonadism]], Females: irregular menses and/or hyperandrogenism
 
|| Minimum diagnosis requires 2 major and 2 minor criteria  
 
OR


| 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 • Short stature • 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
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]]
|}
|}


==References==
==References==
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{{Reflist|2}}
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Latest revision as of 19:56, 14 March 2016

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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

• Dilated cardiomyopathy with congestive heart failure

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

• Hearing loss

• Hepatic dysfunction

• Renal 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

• Short stature

• 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

References


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