RESUMEN
Summary: Extrapulmonary tuberculosis (TB) is more common than pulmonary TB in immuno-suppressed renal transplant recipients. Atypical presentation of TB and disseminated TB is known in transplant recipients. Usually intestinal TB presents with pain abdomen, intermittent subacute intestinal obstruction, diarrhoea and/or constitutional symptoms like fever and weight loss. Here we report a case of renal allograft recipient on regular hospital follow up, presented with acute abdomen with no previous symptoms of fever, weight loss or abdominal symptoms and was diagnosed to have tubercular ileal perforation on exploratory laporatomy and confirmed by histopathological examination. This patient succumbed to the illness due to sepsis despite timely surgery, broad spectrum antibiotics and antitubercular therapy.
Asunto(s)
Adulto , Resultado Fatal , Humanos , Perforación Intestinal/etiología , Perforación Intestinal/mortalidad , Perforación Intestinal/cirugía , Trasplante de Riñón/efectos adversos , Trasplante de Riñón/mortalidad , Masculino , Sepsis/mortalidad , Tuberculosis/complicaciones , Tuberculosis/epidemiología , Tuberculosis/mortalidad , Tuberculosis/cirugíaRESUMEN
More than 2,500 samples were analyzed and we found 135 abnormal amino acid patients in different categories. The major four diseases are: Maple syrup urine disease (MSUD), Phenylketonuria (PKU) both classical PKU due to L-phenylalanine hydroxylase deficiency and 6-pyruvoyl tetrahydropterin synthase (6PTPS) deficiency, homocystinuria and Tyrosinemia.
Asunto(s)
Errores Innatos del Metabolismo de los Aminoácidos/diagnóstico , Aminoácidos/sangre , Consanguinidad , Humanos , Lactante , Recién Nacido , Tamizaje Neonatal , Arabia SauditaRESUMEN
Plasma amino acid concentrations were measured in Maple Syrup Urine Disease (MSUD) infants using reversed phase high performance liquid chromatography (HPLC). The technique involved an automated data acquisition system and phenylisothiocyanate (PITC) pre-column derivatization. During a period of three years more than 14 cases of MSUD have been confirmed in our hospital suggesting an alarmingly high rate of incidence of this disease in the Kingdom as compared to the West. We present here a simple and reliable method of quantitating the branched chain and other amino acid concentrations in plasma samples of children with metabolic disorders. In addition, we also present a fluorimetric COBAS based enzymatic method for the rapid semiquantitative measurement of branched chain amino acids for a disease in which a prompt initial diagnosis is essential.