Alstrom syndrome diagnostic criteria: Difference between revisions

Jump to navigation Jump to search
VisualWikitext
m (Bot: Adding CME Category::Cardiology)
 
(15 intermediate revisions by one other user not shown)
Line 9: Line 9:
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
 
• 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
|-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 ]]
 
• [[Liver failure|Hepatic dysfunction]]
 
• [[Renal failure]]
 
• Advanced bone age


Minimum diagnosis requires 2 major criteria or 1 major and 2 minor criteria.
|| Minimum diagnosis requires 2 major criteria  


Major criteria are:
OR
1) [[ALMS1]] [[mutatio]]n in 1 [[allele]] and/or family history of Alström Syndrome
2) Vision pathology ([[nystagmus]], [[photophobia]])


Minor criteria are:
1 major and 3 minor criteria  
1) [[Obesity]]
2) [[Dilated cardiomyopathy]] with [[congestive heart failure]]


Other variable supportive evidence:
|| 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.
|-style="background:white; color:black"
| 15 years - adulthood || • ALMS1 mutation in 1 allele and/or family history of Alström Syndrome


'''At 3-14 years of age:'''
• Vision pathology (history of nystagmus in infancy/childhood, legal blindness, cone and rod dystrophy by 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:
• 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.
• [[Short stature]]


Major criteria are:
• Males: [[hypogonadism]], Females: irregular menses and/or hyperandrogenism
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:
|| Minimum diagnosis requires 2 major and 2 minor criteria
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:
OR
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


{| class="wikitable" border="1"
|| 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]]
|-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]] [[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
|-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
|}
|}


==References==
==References==
{{Reflist|2}}
{{Reflist|2}}
{{WikiDoc Help Menu}}
{{WikiDoc Sources}}
[[CME Category::Cardiology]]


[[Category:Genetic Disease]]
[[Category:Genetic Disease]]
Line 80: Line 88:
[[Category:Cardiology]]
[[Category:Cardiology]]
[[Category:Disease]]
[[Category:Disease]]
{{WikiDoc Help Menu}}
{{WikiDoc Sources}}

Latest revision as of 19:56, 14 March 2016

Alstrom syndrome Microchapters

Home

Patient Information

Overview

Historical Perspective

Pathophysiology

Differentiating Alstrom syndrome from other Diseases

Epidemiology and Demographics

Screening

Natural History, Complications and Prognosis

Diagnosis

Diagnostic Criteria

History and Symptoms

Physical Examination

Laboratory Findings

Electrocardiogram

Chest X Ray

CT

MRI

Echocardiography or Ultrasound

Other Imaging Findings

Other Diagnostic Studies

Treatment

Medical Therapy

Surgery

Primary Prevention

Tertiary Prevention

Cost-Effectiveness of Therapy

Future or Investigational Therapies

Case Studies

Case #1

Alstrom syndrome diagnostic criteria On the Web

Most recent articles

Most cited articles

Review articles

CME Programs

slides

Images

American Roentgen Ray Society Images of Alstrom syndrome diagnostic criteria

All Images
X-rays
Echo & Ultrasound
CT Images
MRI

Ongoing Trials at Clinical Trials.gov

US National Guidelines Clearinghouse

NICE Guidance

FDA on Alstrom syndrome diagnostic criteria

CDC on Alstrom syndrome diagnostic criteria

Alstrom syndrome diagnostic criteria in the news

Blogs on Alstrom syndrome diagnostic criteria

Directions to Hospitals Treating Alstrom syndrome

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

• 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


Template:WikiDoc Sources CME Category::Cardiology

Retrieved from "https://www.wikidoc.org/index.php?title=Alstrom_syndrome_diagnostic_criteria&oldid=1225174"