ABSTRACT
Ataxia-telangiectasia (AT) is a rare autosomal recessive disease with a complex phenotype involving cerebellar degeneration, immunodeficiency, cancer risk and radiosensitivity. Our aim has been to identify Swedish AT patients in order to study the possible "Swedish phenotype" of the disease. In the 19 patients identified in Sweden we found a phenotype fairly similar to what has been described internationally, with the exception of some differences including lower cancer incidence in patients and their relatives and somewhat more pronounced immunodeficiency and concomitant susceptibility to infections.
Subject(s)
Ataxia Telangiectasia/genetics , Adolescent , Adult , Ataxia Telangiectasia/diagnosis , Ataxia Telangiectasia/epidemiology , Ataxia Telangiectasia/immunology , Child , Child, Preschool , Chromosomes, Human, Pair 11 , Disease Susceptibility , Female , Genetic Predisposition to Disease , Humans , Infant , Infant, Newborn , Male , Mutation , Phenotype , Risk Factors , Sweden/epidemiologyABSTRACT
OBJECTIVE: Virtually all patients with myelomeningocele suffer from neurogenic disorder of the bladder. Problems with incontinence are common and there is also a risk of deterioration of renal function. The aim of the present study was to determine the long-term urological fate of this patient group. PATIENTS AND METHODS: Twelve young adults with myelomeningocele were interviewed and their records reviewed. RESULTS: The patients started clean intermittent catheterization (CIC) at the age of 10-21 years. Three patients underwent urological surgery prior to the start of CIC. This was also the case for 3 patients after having started CIC. Only 1 patient is completely continent. In the rest, the degree of incontinence varies. With few exceptions, the glomerular filtration rate was well preserved. Six of the incontinent patients had, on at least one occasion, denied incontinence to his doctor. CONCLUSION: It seems that the prognosis is good as far as renal function is concerned. However, continence is a prerequisite for good social adjustment. An obstacle for a rational treatment of incontinence, in the adolescent patient group, is the patient's strong tendency to underreport the actual incontinence situation. Thus, every effort must be made in order to obtain a correct history. In patients with validated incontinence, an aggressive treatment policy, including surgical intervention, is justified.
Subject(s)
Meningomyelocele/complications , Urinary Bladder, Neurogenic/complications , Adolescent , Adult , Child , Female , Follow-Up Studies , Humans , Male , Meningomyelocele/surgery , Prognosis , Urinary Bladder, Neurogenic/physiopathology , Urinary Bladder, Neurogenic/therapy , Urinary Incontinence/etiology , UrodynamicsABSTRACT
We report two brothers with glycerol kinase deficiency (GKD). The older brother had serious clinical symptoms, mental and growth retardation, abnormal skeleton, spontaneous fractures and premature loss of abnormal teeth. He and his mother had low serum phosphate levels. He had elevated serum and urine glycerol levels and GKD was found in cultured fibroblasts. Prenatal diagnosis was performed in the second pregnancy. Glycerol kinase activity was considered normal in a chorionic villus sample of the foetus. After birth, it was found that the boy had elevated serum and urine glycerol levels. Enzymatic analysis in cultured fibroblasts revealed that this boy also had GKD, in spite of having no expression of the disease. Chromosomal analyses in the parents and both boys were normal. Major rearrangements or deletions were not detected in molecular studies of DNA from the two brothers. The hybridisation pattern was normal and no allelic loss was observed.
