Asunto(s)
Presión Sanguínea , Conducta Infantil , Hipertensión/etiología , Intoxicación del Sistema Nervioso por Mercurio/complicaciones , Antídotos/uso terapéutico , Antihipertensivos/uso terapéutico , Presión Sanguínea/efectos de los fármacos , Carbamazepina/uso terapéutico , Quelantes/uso terapéutico , Niño , Conducta Infantil/efectos de los fármacos , Femenino , Humanos , Hipertensión/diagnóstico , Hipertensión/tratamiento farmacológico , Hipertensión/fisiopatología , Intoxicación del Sistema Nervioso por Mercurio/diagnóstico , Intoxicación del Sistema Nervioso por Mercurio/tratamiento farmacológico , Intoxicación del Sistema Nervioso por Mercurio/psicología , Succímero/uso terapéutico , Resultado del TratamientoRESUMEN
A small-for-gestational age female infant presented with bilateral hypoplastic kidneys at 3 months of age. She developed chronic renal insufficiency. Insulin-requiring, non-autoimmune diabetes was documented at 6 years of age. She had mild steatosis and iron deposition in the liver, and mal-development of pancreas. Genetic studies revealed a heterozygous mutation (S148L) of the HNF1B gene, compatible with an HNF1B-MODY phenotype (MODY5). This is the first case of HNF1B-MODY reported from Turkey and represents a particularly severe phenotype of the disease.
Asunto(s)
Diabetes Mellitus Tipo 1/genética , Insuficiencia Pancreática Exocrina/genética , Factor Nuclear 1-beta del Hepatocito/genética , Hepatopatías/genética , Mutación , Insuficiencia Renal/genética , Secuencia de Bases , Femenino , Humanos , Hipoglucemiantes , Lactante , Recién Nacido , Recién Nacido Pequeño para la Edad Gestacional , Insulina/uso terapéutico , Hepatopatías/patología , Datos de Secuencia Molecular , Índice de Severidad de la Enfermedad , TurquíaRESUMEN
AIM: The purpose of our study was to evaluate and analyse the prevalence and association of acute kidney injury (AKI) as defined by paediatric Risk, Injury, Failure, Loss of kidney function and End-stage kidney disease (pRIFLE) and Acute Kidney Injury Network (AKIN) classifications in a paediatric intensive care unit (PICU). METHODS: A prospective analysis of all patients that were admitted to our PICU between June 2009 and December 2010 was performed. Patients were classified according to AKIN and pRIFLE criteria. RESULTS: One hundred and eighty-nine patients (mean age 45.9 ± 54.7 months; 110 male, 79 female) were enrolled. Sixty-three (33.3%) patients developed AKI by AKIN criteria and 68 (35.9%) patients developed AKI by pRIFLE criteria. All patients that had AKI according to AKIN criteria also had this diagnosis with pRIFLE criteria. Five patients had developed AKI only according to pRIFLE classification, four of them owing to reduction in their estimated creatinine clearance and one of them owing to changes over 1-week period. The mean length of PICU stay was longer, need for mechanical ventilation and mortality rates were higher in patients with AKI when compared to patients without AKI. CONCLUSION: Although both pRIFLE and AKIN criteria were very helpful in the detection of patients with AKI even in the early stages of it, pRIFLE seems to be more sensitive in paediatric patients.