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Bartter and Gitelman syndromes:Spectrum of clinical manifestations caused by different mutations

World Journal of Methodology 2015年第2期5卷 55-61页

作者： amar al shibli Hassib Narchi Department of Pediatrics Tawam Hospital Department of Pediatrics College of Medicine and Health SciencesUnited Arab Emirates University

Bartter and Gitelman syndromes(BS and GS) are inherited disorders resulting in defects in renal tubularhandling of sodium,potassium and *** considered as genotypic and phenotypic heterogeneous diseases,recent evidence suggests that they constitute a spectrum of disease caused by different genetic mutations with the molecular defects of chloride reabsorption originating at different sites of the nephron in each *** they share some characteristic metabolic abnormalities such as hypokalemia,metabolic alkalosis,hyperplasia of the juxtaglomerular apparatus with hyperreninemia,hyperaldosteronism,the clinical and laboratory manifestations may not always allow distinction between *** tests,measuring the changes in urinary fractional excretion of chloride from baseline after administration of either hydrochlorothiazide or furosemide show very little change(al excretion of chloride from baseline in GS when compared with BS,except when BS is associated with KCNJ1 mutations where a good response to both diuretics *** diuretic test is not recommended for infants or young children with suspected BS because of a higher risk of volume depletion in such *** symptoms and biochemical markers of GS and classic form of BS(type III) may overlap and thus genetic analysis may specify the real cause of ***,although genetic analysis is available,its use remains limited because of limited availability,large gene dimensions,lack of hot-spot mutations,heavy workup time and costs ***,considerable overlap exists between the different genotypes and *** BS and GS usually have distinct presentations and are associated with specific gene mutations,there remains considerable overlap between their phenotypes and ***,they are better described as a spectrum of clinical manifestations caused by different gene mutations.

关键词： Gitelman syndrome Bartter syndrome Potassium Chloride Magnesium Metabolic alkalosis Genetics

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Significance of platelet count in children admitted with bronchiolitis

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World Journal of Clinical Pediatrics 2017年第2期6卷 118-123页

作者： amar al shibli Najla alkuwaiti May Hamie Dima Abukhater Muhammad B Noureddin Abdulla Amri Salwa al Kaabi Aysha al Kaabi Mariam Harbi Hassib Narchi Department of Pediatrics Tawam Hospital Department of Pediatrics College of Medicine and Health SciencesUnited Arab Emirates University

AIM To determine the true prevalence of thrombocytosis in children less than 2 years of age with bronchiolitis,its association with risk factors,disease severity and thromboembolic *** A retrospective observational medical chart review of 305 infants aged two years or less hospitalized for *** outcomes included disease severity,duration of hospital stay,admission to pediatric intensive care unit,or *** also included complications of thrombocytosis,including thromboembolic complications such as cerebrovascular accident,acute coronary syndrome,deep venous thrombosis,pulmonary embolus,mesenteric thrombosis and arterial thrombosis and also hemorrhagic complications such as bleeding(spontaneous hemorrhage in the skin,mucous membranes,gastrointestinal,respiratory,or genitourinary tracts).RESULTS The median age was 4.7 mo and 179 were males(59%).Respiratory syncytial virus was isolated in 268(84%),adenovirus in 23(7%) and influenza virus A or B in 13(4%).Thrombocytosis(platelet count > 500 × 109/L) occurred in 88(29%;95%CI:24%-34%),more commonly in younger infants with the platelet count declining with *** was no significant association with the duration of illness,temperature on admission,white blood cell count,serum C-reactive protein concentration,length of hospital stay or admission to the intensive care *** death,thrombotic or hemorrhagic events *** Thrombocytosis is common in children under two years of age admitted with *** is not associated with disease severity or thromboembolic complications.

关键词： Hospitalization Bronchiolitis Platelet count Thrombocytosis Infant Virus diseases

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