Summary
Liver Transplant (LTx) has been rarely performed in cystic fibrosis (CF) patients and indications and outcomes are not well defined. A questionnaire was sent to all European CF and LTx centers to collect data on CF transplanted patients. We obtained information regarding 57 CF patients. LTx has been performed prevalently in males and in pediatric age. The main complication of cirrhosis was portal hypertension with hypersplenism. In the majority of cases the decision to transplant was based on the contemporary presence of various factors. Post‐LTx survival was high and comparable with that expected for more common pediatric LTx indications. Poor respiratory function was the main risk factor for early death. In the short‐term, respiratory function significantly improved after LTx. LTx is the appropriate treatment for patients with advanced CF‐related liver disease and preserved pulmonary function (Forced Expiratory Volume at 1 s, FEV1 >50%). This poll reveals that most European liver centers perform LTx prior to the development of end‐stage liver disease or overt pulmonary or other clinical decompensation.
Generalized peroxisomal disorders are severe congenital diseases that involve the central nervous system, leading to severe psychomotor retardation, retinopathy, liver disease, and early death. In these disorders, peroxisomes are not normally formed and their enzymes are deficient. Characteristically, plasmalogen synthesis and beta-oxidation of very-long-chain fatty acids (VLCFAs) are affected. We found that patients with generalized peroxisomal disorders have a profound brain deficiency of docosahexaenoic acid (DHA; 22:6n-3) and low DHA concentrations in all tissues and the blood. Given the fundamental role of DHA in neuronal and retinal membranes, a DHA deficiency of this magnitude might be pathogenic. Thus, we studied the possible therapeutic effect of normalizing DHA concentrations in patients with peroxisomal disorders. We chose the DHA ethyl ester (DHA-EE) because of its high degree of purity at daily oral doses of 100-500 mg. This article summarizes the results of treatment of 13 patients with DHA-EE, with some follow-up evidence of clinical improvement. Supplementation with DHA-EE normalized blood DHA values within a few weeks. Plasmalogen concentrations increased in erythrocytes in most patients and after DHA concentrations were normalized, amounts of VLCFAs decreased in plasma. Liver enzymes returned almost to normal in most cases. From a clinical viewpoint, most patients showed improvement in vision, liver function, muscle tone, and social contact. In 3 patients, normalization of brain myelin was detected by magnetic resonance imaging. In 3 others, myelination improved. In a seventh patient, myelination is progressing at a normal rate. These results suggest a fundamental role of DHA in the pathogenesis of Zellweger syndrome. DHA therapy is thus strongly recommended, not only to alleviate symptoms in patients with life-threatening diseases, but also to clarify remaining questions regarding the role of DHA in health and disease.
There are not many causes of metabolic alkalosis with hyponatremic dehydration, and one of them is CF. This report emphasizes sodium depletion as a common sign of CF presentation. This is most important in countries where the neonatal screening test for CF is not available because the disease may be asymptomatic or oligosymptomatic for several months or even years. Cystic fibrosis should be considered in differential diagnosis of any child presenting with unexplained hyponatremic dehydration.
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