RESUMO
La enfermedad de Dent es una tubulopatía recesiva ligada al cromosoma X caracterizada por proteinuria de bajo peso molecular (bpm), hipercalciuria, nefrocalcinosis o nefrolitiasis, disfunción tubular proximal e insuficiencia renal en la adultez. Las mujeres son portadoras y, en general, padecen una forma leve de la enfermedad. La progresión hacia la insuficiencia renal en estadio terminal se da entre los 30 y los 50 años de edad en el 30-80% de los varones afectados. A falta de un tratamiento dirigido al defecto molecular, en la actualidad, los pacientes con enfermedad de Dent reciben tratamientos complementarios orientados a prevenir la nefrolitiasis y la nefrocalcinosis. El caso que presentamos es el de un niño de 11 años con nefrocalcinosis y nefrolitiasis, en quien se detectó una nueva mutación en el gen CLCN5.
Dent's disease is a rare X-linked recessive tubulopathy characterized by low molecular weight (LMW) proteinuria, hypercalciuria, nephrolcalcinosis or nephrolithiasis, proximal tubular dysfunction and renal failure in adulthood. Females are carriers and usually mildly affected. Progression to endstage renal failure are at the 3rd-5th decades of life in 30-80% of affected males. In the absence of therapy targeting for the molecular defect, the current care of patients with Dent's disease is supportive, focusing on the prevention of nephrolithiasis and nephrocalcinosis. We present an 11-year-old child with nephrocalcinosis and nephrolithiasis caused by a new mutation at CLCN5 gene.
Assuntos
Humanos , Masculino , Criança , Canais de Cloreto/genética , Nefrolitíase/etiologia , Doença de Dent/genética , Nefrocalcinose/etiologia , Nefrolitíase/genética , Doença de Dent/fisiopatologia , Mutação , Nefrocalcinose/genéticaRESUMO
Dent's disease is a rare X-linked recessive tubulopathy characterized by low molecular weight (LMW) proteinuria, hypercalciuria, nephrolcalcinosis or nephrolithiasis, proximal tubular dysfunction and renal failure in adulthood. Females are carriers and usually mildly affected. Progression to endstage renal failure are at the 3rd-5th decades of life in 30-80% of affected males. In the absence of therapy targeting for the molecular defect, the current care of patients with Dent's disease is supportive, focusing on the prevention of nephrolithiasis and nephrocalcinosis. We present an 11-year-old child with nephrocalcinosis and nephrolithiasis caused by a new mutation at CLCN5 gene.
La enfermedad de Dent es una tubulopatía recesiva ligada al cromosoma X caracterizada por proteinuria de bajo peso molecular (bpm), hipercalciuria, nefrocalcinosis o nefrolitiasis, disfunción tubular proximal e insuficiencia renal en la adultez. Las mujeres son portadoras y, en general, padecen una forma leve de la enfermedad. La progresión hacia la insuficiencia renal en estadio terminal se da entre los 30 y los 50 años de edad en el 30-80% de los varones afectados. A falta de un tratamiento dirigido al defecto molecular, en la actualidad, los pacientes con enfermedad de Dent reciben tratamientos complementarios orientados a prevenir la nefrolitiasis y la nefrocalcinosis. El caso que presentamos es el de un niño de 11 años con nefrocalcinosis y nefrolitiasis, en quien se detectó una nueva mutación en el gen CLCN5.
Assuntos
Canais de Cloreto/genética , Doença de Dent/genética , Nefrocalcinose/etiologia , Nefrolitíase/etiologia , Criança , Doença de Dent/fisiopatologia , Humanos , Masculino , Mutação , Nefrocalcinose/genética , Nefrolitíase/genéticaRESUMO
This study was carried out to determine the prevalence of intestinal parasites in 2-6 year-old children who were brought to Kars Maternal and Children's Hospital with complaints of gastrointestinal symptoms during March-June 2007. Fecal samples were taken from children and brought to the parasitology laboratory of the Faculty of Veterinary Medicine to be examined for intestinal parasites. Fecal samples were examined by centrifugal formalin ether, zinc-sulphate floatation, and modified acid fast techniques. Lugol solution was used during microscopic examination and suspected samples were also examined by the Giemsa dye technique. The prevalence of intestinal parasites in children was found to be 36.2% (50/138). Protozoan and helminth parasites were found to be 34.1% (47/138) and 2.9% (4/138) in the fecal samples examined, respectively. Giardia intestinalis (10.9%), Entamoeba histolytica/dispar (10.1%), Entamoeba coli (8%), Blastocystis hominis (6.5%), Endolimax nana (4.3%), Chilomastix mesnili (1.4%), Ascaris lumbricoides (1.4%), Entamoeba hartmanni (0.7%), Cyclospora cayetanensis (0.7%), Enterobius vermicularis (0.7%) and Hymenolepis nana (0.7%) were identified from the feces of children of Kars and vicinity. No Cryptosporidium spp. was detected.
