Acta paediatrica Taiwanica = Taiwan er ke yi xue hui za zhi
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Gitelman's syndrome (GS) is a rare autosomal recessive renal tubular disorder characterized by hypokalemia, metabolic alkalosis, hypomagnesemia, and hypocalciuria. It is primarily caused by inactivating mutations of the SLC12A3 gene encoding the thiazide-sensitive Na-Cl cotransporter (NCC) on the apical membrane of distal convoluted tubule. ⋯ Genetic analysis of the NCC gene revealed two novel mutations (N442K and IVS6-1G > A). With regular potassium and magnesium supplementation, the patient has remained normal growth and development during two years of follow-up.
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Acta Paediatr Taiwan · Nov 2007
Intermittent small doses of propofol for sedation of pediatric patients undergoing magnetic resonance imaging.
Sedation of children is always necessary for magnetic resonance imaging (MRI). General anesthesia may be recommended for infants and small children to protect the airway or in children who have previously failed sedation. Our practice has been to use intermittent administration of small doses of propofol. ⋯ Our experience demonstrates that intermittent administration of small doses of propofol by experienced personnel for MRI can be used safely and effectively in pediatric patients.
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Harlequin ichthyosis (HI) is the most devastating form of skin disorder, which is inherited as autosomal recessive trait related to consanguineous marriage. Although prenatal examination has become scheduled and convenient throughout Taiwan, an unexpected case of HI in a male premature infant born at 32 weeks of gestation was presented. ⋯ We report our management and the massive impact left on both parents. We believe this is an extremely rare case in Taiwan.
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Pleuritis with empyema is a serious complication of bacterial pneumonia, which often causes substantial morbidity and mortality among pediatric patients. Currently percutaneous catheter drainage is the mainstay therapy for loculated empyema. Intrapleural instillation of streptokinase, urokinase, and recombinant tissue plasminogen activator has been reported to facilitate the drainage of viscous fluid and fibrinous debris or multiple loculations from the pleural space of such patients. ⋯ Intrapleural instillation of streptokinase seldom caused clinical adverse effect and appears to be a safe adjunctive therapy to facilitate the drainage of empyema in pediatric patients. Further studies with better research design to compare the fibrinolytic agent instillation and the VATS as the first step treatment of childhood empyema are needed.