Alstrom Syndrome Life Expectancy & Diagnosis,Treatment,Symptoms: Alstrom Syndrome is a very rare inherited disease that can lead to blindness, deafness, diabetes, and obesity. Alstrom syndrome is an autosomal recessive hereditary disease. This means that a person must inherit a copy of the defective gene from both parents. Extremely rare, but more common in Holland and Sweden than in the United States. Altered gene, ALMS1 is considered as the goal of the condition.
However, it is not yet known how this gene causes the disorder.
Alstrom Syndrome Symptoms
- Blindness or severe visual impairment in infancy
- Dark spots on the skin (acanthosis)
- Impaired cardiac function (cardiomyopathy), which can lead to heart failure
- Progressive renal failure
- Growth retardation
- Symptoms of childhood diabetes or type 2 diabetes
- Sometimes, it can happen:
- Gastrointestinal Reflux
- Liver dysfunction
- Minor penis
Alstrom Syndrome Tests
The eye doctor (ophthalmologist) will examine the eyes.
Tests can be conducted to check:
Blood sugar level (for the diagnosis of hyperglycemia)
Alstrom Syndrome Clinical Pictures
Characterized by significant variability of the clinical picture, even among sibs .
Children at birth have a normal weight of the body , but at over 1 – the first year of life appears obesity . Body mass index is more than 95 centiles . Forchildren with the syndrome Alstrema characterized by rapid tepm growth before puberty period and
advancing boneage .
Early closure of growth zones results in low final growth (< 5 percentile ) in 85 % of patients . Forms a scoliosisor kyphosis .
Almost from the first months of life , nystagmus , photodispheric , retinitis , reduction of central and peripheral visionare observed. The use of electroretinography makes it possible to detect progressive deterioration in the function of rods and cones . Also diagnosed with pigmentary degeneration of the retina . Possible development of completeblindness . in the children’s age , mental development is not affected.
Inspection of the eye bottom in the first year may not reveal pathology , or may reveal a pale disk of the optic nerveand the narrowing of blood vessels of the retina . Later appear progressive degeneration of the neuroepithelium withatrophy and pigment infiltration of internal layers of the retina , which are a 7 – year old age can lead to blindness , cataracts .
Neurosensory deafness in the first decade in 70 % of patients progresses from moderate to severe ( 40 – 70 dB ). From 10 to 30 years, there is a significant decrease in hearing .
Dilated cardiomyopathy with manifestation in childhood or adolescence period is observed more than in 60 % of cases . At some stages of life leads to the occurrence of heart failure and death . Usually, the clinic of dilatedcardiomyopathy , and its result – heart failure depends on their age. manifestations . About 80 % of patients sufferdilated cardiomyopathy at a young age . Of these 10 % have relapses , which are progressing at a later age .
Syndrome of insulin resistance is diagnosed when the presence of the following criteria ( not less than 3 out of 4 – x ) :
insulin resistance ( from hyperinsulinemia to glucose intolerance );
dyslipidemia ( high concentration of total cholestenin , LDL , triglycerides and low concentration of HDL );
high blood pressure ;
obesity is predominantly torso ;
Often , black acanthosis ( acanthosis nigricans ) is associated with insulin resistance .
Delayed mental development is described in some patients , although as a rule do not reach the deep level . Thesechildren have difficulties in learning , perception and speech development , the delay in the formation of motor skills .
Diabetes mellitus is the result of insulin resistance . As a rule it is
Alstrom Syndrome Life Expectancy & Diagnosis
The diagnosis of the syndrome Alstrema in large measure based on the presence of the cardinal clinical symptoms , which can appear on throughout the whole of life:
- pigmentary degeneration of the retina with nystagmus and fotodisforiey ;
- obesity ;
- progressive loss of hearing ;
- dilated cardiomyopathy ;
- insulin resistance syndrome ( metabolic syndrome ).
Laboratory data: hyperuricemia , hypertriglyceridemia and aminoaciduria.
Carried out with the syndrome Bardet – Biedl – the main difference in the onset of the disease . Syndrome Alstremabegins around 2 – x years , and the syndrome Bardet – Biedl about 8 years of age . But there are also other differences . They also carry out differential
diagnostics with Leber ‘s embedded amaurosis ( LCA), early dilatation cardiomyopathy, hereditary mitochondrial diseases .
Alstrom Syndrome Treatment
There are no specific ways to cure alstrom syndrome. Treatment of symptoms may include:
- Diabetes Medication
- Hearing Aids
- Heart Drugs
- Thyroid hormone replacement
The following states will develop:
- Permanent blindness
- Type 2 diabetes
- Kidney and liver failure may worsen.
- Possible complications
- Complications of diabetes
- Coronary heart disease (for diabetes and high cholesterol)
- Fatigue and shortness of breath (with poor heart function – not treated)
Call your doctor if you suspect diabetes symptoms, such as increased thirst and urination. Seek medical attention immediately if you suspect that your infant or child cannot see or hear as usual.