[Pneumonectomy in cystic fibrosis]. / Neumonectomía en fibrosis quística.

We present the case of a 13-year-old boy with cystic fibrosis (CF) who developed severe right-sided lung infection with formation of abscess and localized bronchiectasis. The boy's lung disease was complicated by nephrotic syndrome and secondary amyloidosis. Unilateral pneumonectomy was performed, producing significant clinical improvement with a remarkable increase in quality of life which has lasted to the present date, 15 years later. Most patients with CF develop lung disease, which is the main cause of adult mortality in this population. Lung transplantation is currently considered the treatment of choice in severe bilateral lung disease in CF. However, in severe unilateral lung disease such as localized bronchiectasis, surgical resection of the affected lobe or lung is still a worthwhile option as a rescue therapy for patients who are at high risk of dying while waiting for lung transplantation.

Neumonectomía en fibrosis quística / Pneumonectomy in cystic fibrosis

Se presenta un niño de 13 años diagnosticado de fibrosis quística que desarrolló una infección grave del pulmón derecho con formación de abscesos y bronquiectasias localizadas. La evolución de su enfermedad se complicó con un síndrome nefrótico y amiloidosis secundaria. Se practicó neumonectomía derecha con lo que se consiguió una gran mejoría clínica y un aumento significativo en su calidad de vida hasta el momento actual, 15 años más tarde. Muchos pacientes con fibrosis quística desarrollan enfermedad pulmonar. Esta es la principal causa de mortalidad en la edad adulta. Hoy día, el trasplante pulmonar se considera el tratamiento de elección en la enfermedad pulmonar grave bilateral. Sin embargo, en los casos de lesiones graves unilaterales, como bronquiectasias localizadas, la resección quirúrgica del lóbulo o pulmón afectado es todavía una opción terapéutica para pacientes con alto riesgo de fallecimiento en la lista de espera para trasplante pulmonar (AU)

[Usefulness of magnetic cholangioresonance in the study of hepatobiliary disease in patients adults with cystic fibrosis]. / Utilidad de la colangiorresonancia magnética en el estudio de la enfermedad hepatobiliar en pacientes adultos con fibrosis quística.

INTRODUCTION: Because alterations in the bile ducts found in cystic fibrosis mimic those found in primary sclerosing cholangitis, magnetic resonance cholangiography (MRC) could be a useful diagnosis technique, especially because it is non-invasive. MATERIAL AND METHODS: We prospectively studied 26 adult patients with cystic fibrosis. Of these, 11 had liver disease previously diagnosed on the basis of symptomatology, physical examination, liver function tests and abdominal ultrasound (group A) and 15 had no apparent liver disease (group B). In all patients liver function tests, abdominal ultrasound and MRC using 1.5 Teslas General Electric and Siemens systems were carried out. The images were interpreted blind by two radiologists with experience in the interpretation of biliary alterations in cystic fibrosis. RESULT: In 6 of the 11 patients in group A, MRC showed signs of liver cirrhosis (nodularity, irregular surface, splenomegaly, varicosity); 4 patients showed rose-colored images in the choledoch and intrahepatic ducts; of the 5 patients with previous non-cirrhotic liver disease, 2 showed rose-colored intrahepatic ducts, 2 showed dilatation of the intrahepatic ducts and 1 showed hepatosplenomegaly with hepatic steatosis. Of the 15 patients in group B, bile duct anomalies were found in 5. Of these, 3 showed rose-colored images of the hepatic ducts and/or choledoch, 1 showed stenosis of the common hepatic duct with rigidity of the intrahepatic ducts and 1 showed irregularities in the caliber of the intrahepatic ducts without dilatation, which were suspicious for intrahepatic lithiasis. CONCLUSIONS: MRC is a useful technique in the study of hepatobiliary disease in cystic fibrosis because it detected anomalies in all our patients previously diagnosed with liver disease and revealed ductal lesions not revealed by other non-invasive techniques.

[Digestive alterations in cystic fibrosis. Retrospective study of a series of 46 adult patients]. / Alteraciones digestivas en la fibrosis quística. Estudio retrospectivo de una serie de 46 pacientes adultos.

The clinical histories of 46 adult patients (24 men and 22 women, mean age 20.6 +/- 5.1 years) diagnosed of cystic fibrosis were reviewed evaluating the digestive alterations. The age at diagnosis of cystic fibrosis was 5.63 +/- 5.3 years (range: newborns-19 years). The initial diagnosis was established by ileus meconium, in four, lung disease in 15, steatorrhea in 12, lung disease and steatorrhea in 13 and following the diagnosis of cystic fibrosis in siblings in two. Four patients presented ileus meconium, nine occlusive syndrome of the distal intestine, 42 steatorrhea (20 severe, 12 moderate and 10 mild), with the severity of the steatorrhea not being associated with the severity of the respiratory insufficiency. Two patients presents rectal prolapse, five gastroesophageal reflux syndrome (four with hiatal hernia), six cholelithiasis, one recurrent pancreatitis without detection of biliary lithiasis, one neonatal cholestasis and 10 malnutrition (five severe and five moderate) fundamentally in relation to the severity of the lung disease and, to a lesser degree, liver disease. In 10 patients chronic liver disease was diagnosed corresponding to established cirrhosis in seven, indicating liver transplantation in two. In most cases, the liver disease was already manifest in adolescence even in the cirrhotic stage. Cholangiography by magnetic resonance was useful in the study of liver disease showing abnormalities which imitated primary sclerosing cholangitis. Treatment with ursodesoxicholic acid at a dosis of 20 mg/kg/day led to a significant decrease in the transaminase values and overall of gammaglutamyltranspeptidase but did not avoid complications in the cirrhotic stages. Genetic studies performed in 36 patients detected the delta F508 mutation in 69.4%, being found in almost all of the patients with ileus meconium, occlusive syndrome of the distal intestine, liver disease, cholelithiasis and malnutrition.

[An alpha 1-antitrypsin aerosol in the treatment of cystic fibrosis]. / Aerosol de alfa-1-antitripsina en el tratamiento de la fibrosis quística.

Alpha-1-antitrypsin (a-1AT) is a natural inhibitor of the elastase that is released physiologically by neutrophils in the lung. As a result of the increased neutrophil degranulation secondary to chronic epithelial inflammation in cystic fibrosis patients with chronic infections by Pseudomonas aeruginosa, there are larger amounts of elastase in airway secretions. This results in the a-1AT concentration being insufficient to inhibit the destructive proteolytic degradation, culminating in a chronic epithelial burden and a worsening of the cystic fibrosis pulmonary disease. In this preliminary study, we have evaluated the results obtained from the sputum of 4 cystic fibrosis patients treated with a-1AT (Prolastina, Bayer) in aerosol. The levels of a-1AT, neutrophil elastase, antineutrophil elastase activity, IgG, albumin and clinical parameters were measured. The concentration of sputum a-1AT was increased when compared to the same patient after 8 days with treatment (we compared means with Student's t-test and p < 0.05 was considered significant). We did the same with the impairment of neutrophil elastase, although we found no significant results. Nevertheless, antineutrophil elastase activity increased (p < 0.05). These results encourage us to continue the same treatment for a longer period of time to prevent pulmonary disease in CF subjects.

Cystic fibrosis patients with mutation 1949del84 in exon 13 of the CFTR gene have a similar clinical severity as delta F508 homozygotes.

The majority of the identified cystic fibrosis (CF) mutations are very uncommon in the total patient population, making the correlation between the clinical presentation and the molecular alterations difficult. The largest deletion that has been described so far in CF is of 84 bp in exon 13, which corresponds to the regulatory (R) domain of the CF transmembrane conductance regulator (CFTR) protein. We have analysed 340 Spanish CF patients for this deletion, named 1949del84, and found three further compound heterozygous patients for mutations 1949del84 and delta F508, and one for 1949del84 and an unknown mutation. Evaluation of the clinical data in these patients suggests that this in-frame deletion, when associated with delta F508, has a similar disease severity to that of delta F508 homozygous patients.

[The form of crystallization of perspiration in pancreatic cystic fibrosis]. / Estudio de la forma de cristalización del sudor en la fibrosis quística del páncreas.

The present study is based on the typical dendritic forms of the sweat crystallization from patients with cystic fibrosis (CF). The phenomenon was analyzed in sweat collected by pilocarpine iontophoresis in 26 affected subjects (Homozygotes), 42 heterozygotes and 100 healthy-control subjects. The positive crystallization pattern (dendritic form), became useful in identifying the affected patients in 100% of cases and in differentiating them from the healthy-control subjects (100%, negative crystallization). The positive crystallization pattern was not altered by decreasing the electrolytes concentration in the sweat. This test could be a help to evaluate the diagnosis of cystic fibrosis.

[Alkaline phosphatase in the intestinal mucosa of children with the malabsorption syndrome]. / Fosfatasa alcalina en la mucosa intestinal en niños con síndrome de malabsorción.

110 children suffering from malabsorption underwent several biopsies of the gut to confirm coeliac disease (CD) following the ESPGAN criteria. We studied the values for alkaline phosphatase (AP) in the intestinal mucosa after gluten challenge. In 42 patients the after challenge biopsy was normal, thus excluding coeliac disease. In 68 children the mucosa was severely damaged confirming CD. In all biopsy specimens lactase, invertase, maltase and alkaline phosphatase were measured. We found a good correlation between PA values and severity of mucosal damage, showing that measurement of PA in the mucosa is helpful in assessing the degree of mucosal atrophy in children suffering from malabsorption.

[Chronic diarrhea with selective IgA deficit associated with Turner's syndrome]. / Diarrea crónica con déficit de IgA asociada a síndrome de Turner.

Three cases of selective IgA deficit with chronic diarrhea associated to Turner's syndrome are reported. The first patient presented gluten intolerance (celiac disease), confirmed by intestinal biopsy. The second patient turned out to suffer from cow's milk and gluten intolerance, and in the third an intestinal lambliasis was detected as well as gluten intolerance. Cytogenetic studies revealed in two patients a Turner's syndrome variant with isochromosome X, and the third presented Turner's syndrome associated with chromosome breakage. In all of the patients a history of repetitive upper respiratory infections and otitis was reported. The low incidence found in the literature of this rare association is also remarked, speculating about the role played by chromosome X in IgA synthesis.