RESUMO
UNLABELLED: In order to analyze the current epidemiological pattern of mycobacterial infection in children in Central Tunisia, we studied retrospectively the clinical feature of 31 children with mycobacterial infection enrolled in the pediatrics department of Sousse during eight years period (1994-2001). Twenty three boys and eight girls aged two months to 13 years (mean age: 4 years and 8 months) were investigated. Among them, 24 patients suffered of tuberculosis (TBC) and 7 of disseminated BCG-osis. Pleuropulmonary TBC was observed in 12 patients either isolated (7 cases) or in association with at least another localization (5cases). 17 patients had extrapulmonary TBC with variable localisation. The 7 patients with disseminated BCG-osis had an underlying primary immunodeficiency of the cell-mediated immune response. CONCLUSION: The current epidemiology of mycobacterial infections in children in our region indicates a high frequency of severe adverse effects of BCG vaccination occurring in genetically immunodeficient children.
Assuntos
Mycobacterium bovis , Tuberculose/epidemiologia , Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Estudos Retrospectivos , Tunísia/epidemiologiaRESUMO
The emphysematous pyelonephritis is a rare and severe renal infection characterized by the presence of gas in renal parenchyma and its perirenal spaces. We report two cases of emphysematous pyelonephritis in two diabetic women (53 and 50 years old respectively). In the first case, the treatment was based on nephrectomy because of the presence of a septic shock and three risk factors, which are acute renal failure, hematuria and thrombopenia. In the second case, the treatment was only medical. The evolution was favorable in the two cases. We insist in this article that this diagnosis should be considered in every female diabetic patient having severe acute pyelonephritis resistant to a well-conducted medical treatment.
Assuntos
Enfisema/diagnóstico , Enfisema/terapia , Pielonefrite/diagnóstico , Pielonefrite/terapia , Antibacterianos/uso terapêutico , Diabetes Mellitus Tipo 2/complicações , Feminino , Humanos , Pessoa de Meia-Idade , NefrectomiaRESUMO
BACKGROUND/AIMS: The coexistence of triple A syndrome (AAAS) and congenital hypogonadotropic hypogonadism (CHH) has so far not been reported in the literature. This study aimed to characterize at the clinical and genetic level one patient presenting an association of AAAS and CHH in order to identify causal mutations. METHODS: Clinical and endocrinal investigations were performed and followed by mutational screening of candidate genes. RESULTS: At the age of 18, the patient presented sexual infantilism, a micropenis and gynecomastia. No mutation was revealed in GnRHR, TACR3/TAC3, PROK2/PROKR2 and PROP1 genes, except a homozygous intronic variation (c.244 + 128C>T; dbSNP: rs350129) in the KISS1R gene, which is likely nondeleterious. A homozygous splice-donor site mutation (IVS14 + 1G>A) was found in the AAAS gene. This mutation, responsible for AAAS, is a founder mutation in North Africa. CONCLUSION: This is the first report on a Tunisian patient with the coexistence of AAAS and CHH. The diagnosis of CHH should be taken in consideration in patients with Allgrove syndrome and who carry the IVS14 + 1G>A mutation as this might challenge appropriate genetic counseling.