RESUMEN
Pyruvate kinase (PK) is a key enzyme of anaerobic glycolysis. The genetic heterogeneity of PK deficiency (PKD) is high, and over 400 unique variants have been identified. Twenty-nine patients who had been diagnosed as PKD genetically in seven distinct paediatric haematology departments were evaluated. Fifteen of 23 patients (65.2%) had low PK levels. The PK:hexokinase ratio had 100% sensitivity for PKD diagnosis, superior to PK enzyme assay. Two novel intronic variants (c.695-1G>A and c.694+43C>T) have been described. PKD should be suspected in patients with chronic non-spherocytic haemolytic anaemia, even if enzyme levels are falsely normal. Total PKLR gene sequencing is necessary for the characterization of patients with PKD and for genetic counselling.
Asunto(s)
Anemia Hemolítica Congénita no Esferocítica , Intrones , Piruvato Quinasa , Errores Innatos del Metabolismo del Piruvato , Humanos , Piruvato Quinasa/deficiencia , Piruvato Quinasa/genética , Masculino , Femenino , Errores Innatos del Metabolismo del Piruvato/genética , Niño , Preescolar , Anemia Hemolítica Congénita no Esferocítica/genética , Turquía , Lactante , Adolescente , MutaciónRESUMEN
BACKGROUND: Isolated hemolysis or hemolytic anemia and 5-oxoprolinuria are 2 distinct medical conditions in the clinical spectrum associated with glutathione synthetase deficiency. CLINICAL OBSERVATION: A 1-day-old female baby presented with anemia and respiratory distress. Her hemoglobin level was 9.5 g/dL and the total serum bilirubin level was 5.6 mg/dL. Metabolic acidosis was detected in her blood gas analysis. Metabolic acidosis recurred despite treatment and further investigation was required. Her 5-oxoproline level was 3815 mmol/mol creatinine in urine organic acid analysis, and a homozygous mutation [p.R125H (c.374G>A)] was found in the glutathione synthetase gene. CONCLUSIONS: GSD has been observed in very few patients and is rarely considered in the differential diagnosis of hemolytic anemia in newborns.
Asunto(s)
Errores Innatos del Metabolismo de los Aminoácidos/diagnóstico , Anemia Hemolítica/etiología , Glutatión Sintasa/deficiencia , Errores Innatos del Metabolismo de los Aminoácidos/complicaciones , Errores Innatos del Metabolismo de los Aminoácidos/genética , Anemia Hemolítica/genética , Anemia Hemolítica Congénita/etiología , Anemia Hemolítica Congénita/genética , Diagnóstico Diferencial , Femenino , Glutatión Sintasa/genética , Humanos , Recién Nacido , Enfermedades del Recién Nacido/diagnóstico , Enfermedades del Recién Nacido/genética , MutaciónRESUMEN
Renal involvement in non-Hodgkin lymphoma is a recognized development, but it mostly follows a diagnosis of lymphoma. We describe a rare case of a T-cell-type non-Hodgkin lymphoma that first presents as nephromegaly in a 5-year-old girl admitted to the emergency department with abdominal pain. Further investigation revealed bilateral nephromegaly, but the results of blood tests, imaging studies, and bone marrow aspiration were inconclusive. During the second week of hospitalization, significant physical examination revealed an enlarged lymph node in the anterior cervical chains, confirming a diagnosis of Non-Hodgkin's lymphoma. This case illustrates that it is important to have a high degree of suspicion in any patient presenting with unexplained enlarged kidneys without any identifiable cause because it could be the first presentation of a hematologic malignancy.
Asunto(s)
Neoplasias Renales/secundario , Riñón/patología , Linfoma de Células T/diagnóstico , Dolor Abdominal/etiología , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapéutico , Preescolar , Diagnóstico Diferencial , Femenino , Humanos , Riñón/diagnóstico por imagen , Neoplasias Renales/tratamiento farmacológico , Linfoma de Células T/tratamiento farmacológicoRESUMEN
Vincristine (VCR) is a fundamental component of various chemotherapy protocols. Several reports of accidental intramuscular (i.m.) administration or overdose of VCR have been published in the medical literature. We report on an uneventful clinical course of both i.m. and overdose of VCR in a 6-year-old girl with Wilms' tumor. To prevent the administration of overdosed drug by the i.m. route accidentally, chemotherapy should be administrated only by experienced medical doctors.
Asunto(s)
Antineoplásicos Fitogénicos/envenenamiento , Neoplasias Renales/tratamiento farmacológico , Vincristina/envenenamiento , Tumor de Wilms/tratamiento farmacológico , Niño , Sobredosis de Droga , Femenino , HumanosAsunto(s)
Enfermedades en Gemelos/genética , Muerte Fetal/genética , Predisposición Genética a la Enfermedad/genética , Metilenotetrahidrofolato Reductasa (NADPH2)/genética , Polimorfismo de Nucleótido Simple , Complicaciones del Embarazo/genética , Accidente Cerebrovascular/genética , Femenino , Humanos , Masculino , EmbarazoRESUMEN
BACKGROUND: Intracranial hemorrhage (ICH) is a life-threatening situation in childhood. Congenital factor deficiencies (CFD) like hemophilia may cause ICH, and ICH may be the initial presentation in some cases. METHODS: From 2000 to 2010, 107 children with CFD from Erciyes University, Faculty of Medicine, Department of Pediatric Hematology, were evaluated. The ICH episodes were identified by medical history, general physical examination, detailed neurological examination, and CT or MR scan. The management strategies, surgical intervention, and outcome were noted. RESULTS: Twenty-one episodes of ICH were seen in 18 patients (16.8%) out of 107 CFD patients. The mean age of the patients was 42.1 months. Fourteen out of 18 patients were male, and four were female. Twelve (57.1%) out of 21 ICH episodes were caused by trauma, and nine (42.9%) were non-trauma related. Epidural hematoma was most frequently observed. All patients survived, but four had decrease in intellectual capacity and motor deficit. CONCLUSION: The optimal management of ICH in children with CFD depends on immediate recognition and prompt replacement therapy to ensure hemostatic balance with adequate surgical intervention.