RESUMO
We describe a case of distal renal tubular acidosis in a 20-year-old woman with a history of glue sniffing. On admission she complained of nausea and somnolence. Severe hypokalemia and hyperchloremic metabolic acidosis with normal anion gap were noted. Her urinary osmolar gap and anion gap results were consistent with presence of renal tubular acidosis. Bicarbonate loading test along with urine PCO2 confirmed that she had type 1 renal tubular acidosis due to hydrogen ion secretion defect. Immunohistochemical staining of renal biopsy specimen with anti H+-ATPase antibody showed absence of proton pump in the collecting duct. Thus a case of distal renal tubular acidosis in association with glue sniffing is reported with a review of literatures.
Assuntos
Feminino , Humanos , Adulto Jovem , Equilíbrio Ácido-Base , Acidose , Acidose Tubular Renal , Adesivos , Biópsia , Hipopotassemia , Abuso de Inalantes , Náusea , Bombas de Próton , Prótons , ToluenoRESUMO
Since amyloidosis is usually diagnosed later in the disease process, a high index of suspicion is therefore necessary for earlier diagnosis. Confirmative diagnosis rests on a biopsy of the involved organ. Gastrointestinal amyloidosis causes a variety of symptoms including intestinal obstruction, ulcers, malabsorption, hemorrhaging, protein loss, diarrhea, anorexia, nausea, vomiting, and dysphagia. We confirmed amyloid deposits in the stomach in three patients with epigastric pain through a biopsy of erosive gastritis documented on a gastrofiberscopy. One patient with primary amyloidosis which had invaded his kidney, stomach, and heart, expired, although aggressive treatment with a pacemaker insertion, peritoneal dialysis, and ventilator care was performed. Another patient with multiple myeloma died on the 38th day, after having started systemic chemotherapy. The other patient with secondary amyloidosis due to rheumatoid arthritis, is currently receiving colchicine at our out patient clinic.
Assuntos
Humanos , Amiloidose , Anorexia , Artrite Reumatoide , Biópsia , Colchicina , Transtornos de Deglutição , Diagnóstico , Diarreia , Tratamento Farmacológico , Gastrite , Coração , Obstrução Intestinal , Rim , Mieloma Múltiplo , Náusea , Diálise Peritoneal , Placa Amiloide , Estômago , Úlcera , Ventiladores Mecânicos , VômitoRESUMO
We report a case of a 25-month-old girl presented to us for the evaluation of a severe delayed psychomotor development who also has pigmentary abnormalities. Linear and whorled hyperpigmentations following Blaschko's lines were noticed on her entire body except on her face, palms, soles, eyes and mucous membranes, which closely resembled those found in hypomelanosis of Ito, but inversely pigmented. Histologic examination revealed basal layer hyperpigmentation without incontinence of pigment or dermal melanophages. Chromosomal analysis of cultured peripheral leukocytes and fibroblasts from the hyperpigmented and the hypopigmented skin revealed normal female karyotype with no evidence of mosaicism or chimerism. This entity represents a kind of neurocutaneous syndrome-referred to by some authors as linear and whorled nevoid hypermelanosis.