ABSTRACT
Charcot-Marie-Tooth disease (CMT) is a clinically and genetically heterogeneous group of inherited disorders affecting motor and sensory nerves of the peripheral nervous system. CMT has been reported to be associated with renal diseases, mostly focal segmental glomerulosclerosis (FSGS). However, it was unknown whether these two clinical manifestations represent one common underlying disorder or separate disease entities. Several reports have shown a high prevalence of mutations (75%) in the inverted formin gene (INF2) in patients with CMT-associated glomerulopathy, suggesting that these mutations are a common cause of the dual phenotype. For this reason, we strongly suggest to screen for proteinuria in CMT patients, in order to identify patients with this renal-neurologic phenotype in an early stage, and to perform genetic testing for INF2 mutations.
Subject(s)
Charcot-Marie-Tooth Disease/diagnosis , Proteinuria/diagnosis , Adolescent , Adult , Age of Onset , Charcot-Marie-Tooth Disease/genetics , Charcot-Marie-Tooth Disease/urine , Child , Child, Preschool , Formins , Humans , Microfilament Proteins/genetics , Proteinuria/etiology , Young AdultABSTRACT
60 patients with different forms of neuromuscular disorders were examined. Morphological studies of skeletal muscles and of diurnal excretion with urine of acetic GAG were carried out. It was established that the changes in the stromal connective tissue in the progressive muscular dystrophia appear in the early stages of the disease and affect both the essential substance and the fibrillar structures. The excretion with the urine of acetic GAG was increased. In denervative amyotrophy the changes became apparent against the background of marked clinical symptoms. The data obtained may be important for a differential diagnosis of progressive muscular dystrophy and denervative amyotrophy, and for the development of differential drug therapy.
Subject(s)
Connective Tissue/pathology , Glycosaminoglycans/urine , Muscles/pathology , Muscular Dystrophies/urine , Adolescent , Blood Vessels/pathology , Charcot-Marie-Tooth Disease/urine , Child , Child, Preschool , Dermatan Sulfate/urine , Female , Humans , Hyaluronic Acid/urine , Hydroxyproline/urine , Infant , Male , Muscles/blood supply , Muscular Dystrophies/genetics , Muscular Dystrophies/pathologyABSTRACT
The authors studied 101 children with diseases of the nervous system (with hereditary and acquired pathology) and 205 practically normal children. The urine excretion of specific components of the connective tissue (glycosaminoglycanes) was higher than in normals. Lesions of the connective tissue stroma in such forms of pathology is expressed not only in quantitative changes of glycosaminoglycane, but in their qualitative characteristics. Disturbances of the fractional compounds of glycosaminoglycane in the urine of patients differs from the parameters of chromatograms of normals by a high content of fractions of heparansulfate in a relatively low level of chondroethylsulfatolike fractions. In such states the severity of the clinical picture is accompanied by expressed metabolic disturbances.
