Alström syndrome was first described in 1959 by Swedish psychiatrist Carl- Henry Alström in three patients (Braune 2017).
Alström-hallgren's syndromeL83.x
HistoryThis section has been translated automatically.
DefinitionThis section has been translated automatically.
Autosomal recessive hereditary complex FEhlbildungsyndorm with atypical retinopathia pigmentosa (cone-rod dystrophy; from the first year of life until blindness in childhood), nystagmus, increased sensitivity to light and cataract, obesity, sensorineural hearing loss, acanthosis nigricans, hypogonadism (no offspring), diffuse alopecia, which belongs to the group of ciliopathies (Herold 2021).
Occurrence/EpidemiologyThis section has been translated automatically.
The incidence of Alström syndrome is 1: 1,000,000, making it a very rare condition (Braune 2017).
EtiopathogenesisThis section has been translated automatically.
Autosomal recessive inheritance with mutation at gene ALMS1 (Herold 2021)
Clinical featuresThis section has been translated automatically.
In infancy, nystagmus, photophobia and macular degeneration already occur (Danne 2016).
Otherwise, a broad spectrum of clinical manifestations is found, such as:
- Obesity
- diabetes mellitus type 2
- Cardiomyopathy
- retinopathy (Herold 2021)
- sensorineural hearing loss (Schmidt 2006)
Variable manifestation concern:
- chronic hepatitis
- bronchial asthma (Baumeister 2003)
DiagnosticsThis section has been translated automatically.
Based on the typical constellation of symptoms (Berwanger 2002) and by genetic testing (Braune 2017).
Differential diagnosisThis section has been translated automatically.
Laurence-Moon-Bardet- Biedl- Syndrome (Berwanger 2002)
TherapyThis section has been translated automatically.
Treatment is carried out according to the respective concomitant diseases.
Rosiglitazone is one of the drugs that can be used. This leads to an improvement in the HbA1c concentration, a decrease in serum triglycerides and an improvement in elevated transaminases (Schmidt 2006).
Progression/forecastThis section has been translated automatically.
Life expectancy is limited and is approximately 50 years (Braune 2017).
LiteratureThis section has been translated automatically.
- Alström CH, Hallgren B, Nilson LB, Asander H (1959) Retinal degeneration combined with obesity, diabetes mellitus and neurogenous deafness. Acta Psychiat Neurol Scand 34(Suppl 129): 1-35
- Braune K (2017) Characterization of ALMS1 (Alstrom syndrome 1) transcripts in Hodgkin lymphoma cells. Dissertation for the degree of Doctor of Medicine (Dr. med.) submitted to the Medical Faculty of Martin Luther University Halle-Wittenberg.
- Danne T et al. (2016) Obesity, diabetes and dyslipidemia in childhood. Walter de Gruyter Publishers 5
- Herold G et al (2021) Internal medicine. Herold Publishers 630 - 634
- Risler T et al (2008) Specialist nephrology. Elsevier Urban and Fischer Publishers 372 - 373, 752 - 754
- Schmidt F et al. (2006) Rosiglitazone long-term therapy in patients with Alström- Hallgren syndrome. Diabetology and Metabolism 1 (3) 168 - 172.
- Sohn C et al (2013) Ultrasound in gynecology and obstetrics. Thieme Verlag 243 - 244
- Tai TS et al (2003) Metabolic effects of growth hormone therapy in an Alstrom syndrome patient. Horm Res 60: 297-301
- Tremblay F, La Roche RG, Shea SE, Ludman MD (1993) Longitudinal study of the early electroretinographic changes in Alström's syndrome. Am J Ophthalmol 115: 657-665