ABSTRACT
Primary distal renal tubular acidosis in children [RTA] is characterized by metabolic acidosis due to defect in urinary excretion of hydrogen [H+] in the distal tubular. To report the epidemiological, clinical, therapeutic and evolutionary of distal RTA in our patients. Patients and methods: We conducted a retrospective study of all cases of distal RTA collected in the department of pediatrics of Hedi Chaker University hospital in the south of Tunisia, during a period of 23 years [1988-2010]. We studied the epidemiological, clinical, biological, evolutionary and therapeutic data. During the study period 15 cases of distal RTA were collected. The average age was 6 months [1 month -2 years]. Most common presenting symptoms were vomiting [8cases], failure to thrive [4cases], lack of appetite, polyuria-polydipsia syndrome [1case] and urinary infection [2cases]. The clinical examination showed staturoponderal delay [9 cases], dehydration [6 cases], signs of rickets [3 cases] and polyuria [10 cases]. Biological data showed high urine pH in the presence of metabolic acidosis in 11 cases, hypokalaemia in 10 cases and hypercalciuria in all cases. Urine acidification test with ammonium chloride was performed in 4 cases, the urinary pH was always higher than 5.5 in all cases. Ammoniuria performed in 9 cases was less than 40mmol/l. Radiological investigation objectified a nephrocalcinosis in fourteen patients and signs of rickets in three cases. Deafness was found in three patients. Genetic study performed in two cases showed mutation of ATP6V1B1 gene. The medical treatment involved an alkali load. Long-term outcome was favorable in 7 cases. The distal renal tubular acidosis is a rare pathology in our country but probably under diagnosed. The clinical gravity of this disease and the risk of evolution towards the terminal renal insufficiency justify an antenatal diagnosis to establish a neonatal management or propose a therapeutic interruption of the pregnancy if the distal RTA is associated with a severe pathology
ABSTRACT
Learning disorders are increasingly a concern for Tunisians parents. These difficulties are divided into two groups: specific learning disabilities and non-specific learning disorders. Our work is part of a federated research project. Our aim is to determine the incidence, etiology and management of learning disorders in the region of Sfax. We conducted a descriptive cross-sectional study on a population of 304 children assessed by their teachers as having academic difficulty. A multidisciplinary assessment including a neurological examination, an assessment of score of intelligence and language assessment has been performed for 209 children. Referring to our sample, learning disorders affect 21.3% of children in the region Sfax. The frequency of specific learning disorder is estimated at 10.3% [reading disorder 5.9%, dyscalculia 2.4%, reading disorder associated with dyscalculia 2%]. Non-specific learning disorders were found in 11% of children. Etiologies in this group were dominated by mental retardation [2.1%], inappropriate education [2.3%]. Our study revealed the high frequency of learning difficulties. It allows us to distinguish between specific learning disabilities and non specific learning disorders secondary to neurological or precarious socio-economic conditions. However, the profile and severity of specific learning disorders could not be studied due to the lack of standardized Arabic tests in Tunisia. In countries with a lack of professional and specialized unit care as in Tunisia, reading interventions in school should be proposed. Only children with remaining difficulties after this training will be sent to specialized professionals