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Background/aim: Nocturnal enuresis can be frustrating for children and their families as the child ages. Our aim is to evaluate urine aquaporin 2 (AQP-2) as a noninvasive biomarker of water balance in children with primary monosymptomatic nocturnal enuresis (PMNE). Material and methods: The study included 90 children; sixty-eight children suffering from PMNE aged (9.57 ± 2.16) years and 22 healthy children with good toilet control, matched sex and age. All enuretic children were subjected to complete history taking, clinical evaluation, and bed wetting diary. Serum arginine vasopressin (AVP) and urine AQP-2 were tested in the morning (at 9-11 am) and evening (at 9-11 pm). Blood urea, creatinine, Na, glucose, urine osmolality, Ca/Cr, Alb/Cr and specific gravity were tested simultaneously. Results: Serum AVP, urine AQP-2, and urine osmolality were statistically lower in patients than controls. Patients had a significantly lower level of night serum AVP concentrations, urine AQP-2, and urine osmolality than the corresponding morning level. Urine AQP-2 was significantly correlated with urine osmolality (p < 0.05). AQP-2 had a sensitivity of 90% and a specificity of 70%. However, no statistically significant correlation was found between serum AVP and urine AQP-2. Conclusion: Primary monosymptomatic nocturnal enuresis in children could be associated with reduction of urine excretion of AQP-2 at night. Urine AQP-2 is significantly correlated with urine osmolality. Therefore, it may be a noninvasive biomarker of hydration status in children with PMNE, with good sensitivity and specificity.
Asunto(s)
Acuaporina 2 , Biomarcadores , Ritmo Circadiano , Enuresis Nocturna , Humanos , Niño , Enuresis Nocturna/orina , Enuresis Nocturna/sangre , Masculino , Femenino , Acuaporina 2/orina , Ritmo Circadiano/fisiología , Biomarcadores/orina , Biomarcadores/sangre , Concentración Osmolar , Estudios de Casos y Controles , Arginina Vasopresina/sangre , Arginina Vasopresina/orina , AdolescenteRESUMEN
INTRODUCTION: The Mucopolysaccharidoses (MPS) are rare inherited metabolic disorders. They are characterized by the progressive systemic deposition of Glycosaminoglycans (GAGs). GAGs accumulate in the myocardium and the cardiac valves. Enzyme Replacement Therapy (ERT) is available for MPS I, II, and VI. However, ERT does not appear to improve cardiac valve disease in patients with valve disease present at the start of ERT. AIM: To evaluate the cardiac involvement in Egyptian children with MPS. MATERIALS AND METHODS: Echocardiograms (ECG) were done for 34 patients. Both quantitative and qualitative Glycosaminoglycans (GAGs) in urine and enzyme assay confirmed the diagnosis. Mitral, tricuspid and aortic valves were evaluated for increased thickness, regurgitation and/or stenosis, left ventricular chamber dimensions, septal and posterior wall thicknesses. RESULTS: The patients' age ranged from 0.9-16 years (median age 4 years). They included 19 cases of MPS I (55.9%), 3 cases of MPS II (8.8%), 2 cases of MPS III (5.9%), 6 cases of MPS IV (17.6%) and 4 cases of MPS VI (11.8%). Heart murmur was heard in 9 of the participants (9/34) (26%). However, 15 patients (15/34) (44%) revealed cardiac lesions on ECG examinations. Mitral regurge (47%), followed by pulmonary hypertension (40%), were the most frequent findings. CONCLUSION: The absence of Cardiac murmurs does not exclude the heart involvement. Cardiac valve dysfunction may not be reversible. Regular ECG should be routinely warranted in children with MPS and early ERT are recommended.
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Aseptic meningitis is an acute viral infection of the central nervous system that occurs most frequently in infants and young children. This study was conducted on 100 pediatric patients with ages range from 1.5 months to 6 years. Cerebrospinal fluid (CSF) specimens were obtained with criteria of aseptic CNS infections as documented by pleocytosis, negative Gram stain and negative bacterial culture. Clinical and CSF findings of the affected children were analyzed and CSF specimens were submitted to viral culture and polymerase chain reaction (PCR) techniques to determine the enteroviral etiology. Fifty six percent patients had positive PCR results for the enteroviral genome, compared with 20% by virus culture. We can conclude that PCR is a rapid, reliable and sensitive diagnostic tool for the detection of enteroviral infections. A positive EV-PCR result may affect clinical decision making and may significantly alter the medical care offered to infected patients.