ABSTRACT
Cholestasis is defined as a disorder affecting the production of bile resulting in the retention of its components in the liver and blood. In children, this disorder is almost always due to genetic alterations. Functionally, cholestasis may be the result of hepatic failure to secrete bile due to decrease in transport, synthesis or biliary obstruction. Extrahepatic cholestasis may be caused by biliary atresia and other obstructions of the bile ducts. Intrahepatic cholestasis may be the result of several disorders including progressive familial intrahepatic cholestasis (PFIC) types 1, 2 and 3, an autosomal recessive disease due to mutations in the genes ATP8B1, ABCBll and ABCB4 respectively. Pathophysiology and clinical presentation of this disease are now well understood. Clinically, these patients may present with jaundice, itching, anorexia, and generally unwell. Laboratory tests may disclose conjugated bilirubin over lmg/dl or larger than 20 percent of total bilirubin. Ursodeoxycholic acid, cholestiramine and biliary diversion may help in some of these conditions. Ongoing research into the mechanisms of genetic cholestasis could be key to therapy.
La Colestasia corresponde a un trastorno en la formación y excreción de la bilis que provoca retención de sus componentes y daño en hígado y sangre. La colestasia en el niño casi siempre se debe a una alteración hepática secundaria a causas ahora mayormente conocidas a nivel molecular. Desde el punto de vista funcional la colestasia resulta de una insuficiencia secretora del hígado debido a una disminución del flujo biliar por falla en los procesos de transporte o síntesis o a una obstrucción de la vía biliar. La colestasia extrahepática incluye la atresia de vías biliares y otras obstrucciones de la vía biliar. La colestasia intrahepática incluye las colestasias progresivas familiares PFIC 1, 2 y 3 causadas por fallas en los genes ATP8B1, ABCBll y ABCB4 respectivamente. Clínicamente pueden presentarse con ictericia, prurito, anorexia y compromiso del estado general. Desde el punto de vista del laboratorio las enfermedades colestásicas se caracterizan por hiperbilirrubinemia conjugada mayor a 1 mg/dl o mayor a 20 por ciento de bilirrubina total.
Subject(s)
Humans , Cholestasis, Intrahepatic/physiopathology , Cholestasis, Intrahepatic/genetics , Ursodeoxycholic Acid/therapeutic use , Cholestasis, Intrahepatic/therapy , Hyperbilirubinemia/etiology , Liver TransplantationABSTRACT
Background: Pediatric noninvasive ventilation (NIV) is infrequently used for acute respiratory failure (ARF), BiPAP/CPAP applied through nasal mask can be attempted if strict selection rules are defined. Aim: To evaluate the outcome of NIV in a Pediatric Intermediate Care Unit. Material and methods: The medical records of 14 patients (age range 1 month-13 years, six female), who participated in a prospective protocol of NIV from January to October 2004, were reviewed. Oxygen therapy, delivered through a reservoir bag attached to the ventilation circuit, was used to maintain SaO2 over 90%. Results: The main indication of BiPAP, in 80% of cases, was pulmonary restrictive disease. Indications of NIV were acute exacerbations in patients with chronic domiciliary NIV in three patients, hypoxic ARF in six and hypercapnic ARF in five. The diagnoses were pneumonia/atelectasis in seven patients, bilateral extensive pneumonia in three, RSV bronchiolitis in two, apnea in one, and asthma exacerbation in one. Only one patient required intubation for mechanical ventilation, all others improved. The procedures did not have complications. NIV lasted less than three days in 5 patients, 4 to 7 days in four patients and more than 7 days in five. One third of the patients required fiberoptic bronchoscopy for massive or lobar atelectasis and one third remained on domiciliary NIV program. Conclusions: NIV can be useful and safe in children with ARF admitted to a Pediatric Intermediate Care Unit. If strict inclusion protocols are followed, NIV might avoid mechanical ventilation.