Pediatric Alstrom Syndrome
Introduction
Introduction to children's Alstrom syndrome basic knowledge The proportion of illness: 0.0005% Susceptible people: young children Mode of infection: non-infectious Complications: Diabetes Diabetes insipidus Renal insufficiency Hyperuricemia
Cause
The cause of childhood Alstrom syndrome
(1) Causes of the disease
The etiology of this disease is unknown, and it is an autosomal recessive hereditary disease.
(two) pathogenesis
The disease is autosomal recessive, the hexosaminoglycosidase A gene locus is located at 15q23~q24, and the risk of recurrence of siblings is 1/4. In the past 20 or 30 years, the etiology, biochemical research, and diagnostic methods have become more perfect. The cause of this disease is the lack of hexosaminidase A, which can not cleave N-acetylgalactosamine at the end of the ganglioside molecule, resulting in the accumulation of ganglioside in the brain tissue, so it is also known as ganglioside accumulation disease.
Prevention
Prevention of Alstrom Syndrome in Children
The disease is an autosomal recessive hereditary disease, the cause is unknown, the activity of hexosaminidase A in the blood can be checked, and the patient and the carrier can be examined. The biochemical analysis of the cultured amniotic fluid cells can make prenatal diagnosis, and the preventive measures should be Pre-pregnancy to prenatal:
Pre-marital medical examination plays an active role in preventing birth defects. The size of the effect depends on the examination items and contents, including serological examination (such as hepatitis B virus, treponema pallidum, HIV) and reproductive system examination (such as screening for cervical inflammation). General medical examinations (such as blood pressure, electrocardiogram) and asking about the family history of the disease, personal medical history, etc., do a good job in genetic disease counseling.
Pregnant women should avoid harmful factors as far as possible, including away from smoke, alcohol, drugs, radiation, pesticides, noise, volatile harmful gases, toxic and harmful heavy metals, etc. In the process of antenatal care during pregnancy, systematic screening of birth defects is required, including Regular ultrasound examination, serological screening, etc., if necessary, a chromosome examination.
Once an abnormal result occurs, it is necessary to determine whether to terminate the pregnancy; the safety of the fetus in the uterus; whether there is sequelae after birth, whether it can be treated, how to prognose, etc., and take practical measures for diagnosis and treatment.
The prenatal diagnostic techniques used are: 1 amniocentesis cell culture and related biochemical tests (amniotic puncture time is appropriate for 16 to 20 weeks of pregnancy); 2 maternal blood and amniotic fluid alpha-fetoprotein determination; 3 ultrasound imaging (applicable in about 4 months of pregnancy) 4X line examination (after 5 months of pregnancy) is beneficial for the diagnosis of fetal skeletal malformation; 5 chromatin determination of villus cells (40 to 70 days of conception), predicting fetal sex to help diagnose X-linked genetic diseases; 6 application gene linkage analysis; 7 fetal microscopy.
Through the application of the above technology, the birth of a fetus with severe genetic diseases and congenital malformations is prevented.
Complication
Complications in children with Alstrom syndrome Complications Diabetes diabetes insipidus renal insufficiency hyperuricemia
Diabetes, diabetes insipidus, renal insufficiency, hypogonadism, hyperuricemia and hypertriglyceridemia, and respiratory infections.
Symptom
Symptoms of Alstrom Syndrome in Children Common Symptoms Visual Disorders Drinking Urine Breaking Ureteral Dilation Hyperuricemia Polyuria Neurological Deafness Blood Lipid Abnormal Physiological Obesity
Mainly for vision loss, neurological deafness, obesity, diabetes, diabetes insipidus, renal insufficiency, hypogonadism, hyperuricemia and hypertriglyceridemia, etc. Obesity usually begins in infants and young children, trunk type, 2 ~ 10 years old is the most significant, since childhood, polydipsia, drink more, more urine, appetite.
Progressive vision loss is a constant symptom of this symptom, often starting at 2 years old, mild intraocular oblique in both eyes, bilateral primary optic atrophy in the fundus, and mild hearing loss is also a constant manifestation of the symptoms. Hearing test is shown as Neurological deafness, normal intelligence of the child, venous pyelography showed bilateral ureteropelvic vasodilatation, diabetes is also a common endocrine and metabolic disorder, often hyperuricemia and hypertriglyceridemia, this symptom is not polymorphic, or Mental retardation, mental retardation, etc., are different from other symptoms.
Examine
Examination of children with Alstrom syndrome
Urine ketone body negative, fasting blood glucose 5.8 ~ 8.6mmol / L, glucose tolerance significantly reduced, uric acid 464.0mol / L (7.8mg / dl), blood triglyceride 1.70mmol / L (150mg / dl), -lipoprotein 365mg / dl, cholesterol 4.4mmol / L (170mg / dl), check the blood hexosaminidase A activity, can be detected in patients and carriers, biochemical analysis of cultured amniotic fluid cells, can make prenatal diagnosis.
The fundus showed bilateral primary optic atrophy, hearing measurement showed mild neurological deafness, and venous pyelography showed bilateral pelvic ureteral dilatation.
Diagnosis
Diagnosis and diagnosis of Alstrom syndrome in children
Intrinsic evidence should be considered based on clinical symptoms and laboratory tests.
It is distinguished from early-onset retinitis pigmentosa by progressive decline or nystagmus immediately after birth, clinically associated with Laurence-Moon-Biedl syndrome, Walfran syndrome, Refsum syndrome, and familial nephritis. Identification of the disease.
