Isabel Delgado Pecellín

Mycobacterium lentiflavum en pacientes con fibrosis quística: ¿colonizante o patogénico?

La fibrosis quística (FQ) es la enfermedad monogénica potencialmente mortal más común en población caucásica1,2. La principal causa de morbimortalidad es la afectación respiratoria, causada por obstrucción, inflamación e infección de vías respiratorias que conduce a daño epitelial, remodelación tisular y enfermedad pulmonar terminal1,2. En las últimas décadas, las micobacterias no tuberculosas (MNTB) constituyen una de las complicaciones infecciosas más desafiantes de la FQ3. Son patógenos que pueden causar enfermedad pulmonar significativa, cuyo diagnóstico puede ser difícil en la FQ por la superposición de síntomas, signos y hallazgos radiológicos y cuyo tratamiento constituye una sobrecarga adicional al paciente3. Presentamos los 2 primeros casos de pacientes pediátricos con FQ e infección pulmonar por Mycobacterium lentiflavum (M. lentiflavum). En primer lugar, varón diagnosticado de FQ con síntomas clásicos, 2 mutaciones del gen CFTR (c.1521 1523delCTTT/ 182Cystic fibrosis (CF) is the most common monogenic disease in the Caucasian population, and is potentially fatal.1,2 The major cause of morbidity and mortality is respiratory involvement, due to obstruction, inflammation and infection of the respiratory tract, which lead to epithelial damage, tissue remodeling, and terminal pulmonary disease.1,2 In recent decades, the most challenging infectious complications in CF have been caused by non-tuberculous mycobacteria (NTMB).3 These pathogens can cause significant lung disease, and may be difficult to diagnose in CF patients, due to overlapping symptoms, signs, and radiological findings. Moreover, the treatment of these infections constitutes an additional burden for patients.3 We report the first 2 cases of pediatric CF patients with lung infection caused by Mycobacterium lentiflavum (M. lentiflavum). Our first case was a boy with CF with typical symptoms, 2 CFTR gene mutations (c.1521 1523delCTTT/182

Resultados del programa de screening neonatal de fibrosis quística en Andalucía tras 5 años de su implantación

INTRODUCTION Cystic fibrosis neonatal screening (CFNS), based on double determination of immunoreactive trypsinogen ([IRT] [IRT1/IRT2]), has been available in Andalusia since May 2011. If screening is positive, a sweat test is performed, and if that is positive or inconclusive, genetic testing is requested. OBJECTIVE To analyze CFNS, based on results from the first 4.5 years of the program. MATERIALS AND METHODS Prospective descriptive study of neonates undergoing CFNS. IRT levels, sweat chloride, and mutations were recorded. Statistical analysis was performed using SPSS 12.0. RESULTS Between May 2011 and December 2016, 474,953 neonates underwent CFNS. Of these, 1,087 (0.23%) had elevated IRT2. Since CFNS was introduced, 73 cases of cystic fibrosis were diagnosed; 60 were diagnosed by positive CFNS, and 13 were diagnosed by other means. In one case, the patient developed a typical clinical picture of cystic fibrosis, but had not undergone CFNS at the decision of the parents; the remaining 12 had a negative CFNS (false negatives). Of these, one patient was diagnosed before symptoms developed, as his twin brother had a positive CFNS result; another had chloride at the upper limit of normal, and was subsequently diagnosed with genetic testing before symptoms appeared; and 10 patients developed clinical signs and symptoms. Excluding patients with meconium ileus, sensitivity and specificity of the CFNS program were 85.71% and 99.78%, respectively. The incidence of the disease in Andalusia is 1/6,506 live births. CONCLUSION These results are a basis for reflection on possible areas for improvement of the CFNS algorithm, and thought may be given to the introduction of genetic studies to increase sensitivity and reduce false positives.

Atelectasia persistente en paciente con fibrosis quística: ¿debemos tratarla siempre con antibioterapia?

2. Morikawa N, Kuroda T, Honna T, Kitano Y, Fuchimoto Y, Terawaki K, et al. Congenital bronchial atresia in infants and children. J Pediatr Surg. 2005;40:1822–6. 3. Matsushima H, Takayanagi N, Satoh M, Kurashima K, Kanauchi K, Hoshi T, et al. Congenital bronchial atresia: radiologic findings in nine patients. J Comput Assist Tomogr. 2002;26:860–4. 4. Wang Y, Dai W, Sun Y, Chu X, Yang B, Zhao M. Congenital bronchial atresia: diagnosis and treatment. Int J Med Sci. 2012;9:207–12.

Bronquitis plástica idiopática como causa infrecuente de atelectasia pulmonar masiva recurrente

Plastic bronchitis (PB) is an uncommon disease characterized by the formation of bronchial casts that partially or completely block the bronchial lumen.1,2 It has been described as a complication of respiratory diseases, lymphatic abnormalities, infections and, particularly, congenital heart disease surgery, especially Fontan palliation,1,2 and is commonly confused with bronchoaspiration.2 We report a case of idiopathic PB. A 10-year-old boy was admitted for irritative cough, pain in left hemithorax and dyspnea with onset 3 weeks previously. Of note on examination was severe hypoventilation of the left hemothorax. Anteroposterior chest X-ray showed left pulmonary collapse (Fig. 1A). Pneumonia was suspected, so intravenous antibiotics were started, with no clinical or radiological improvement. Lung computed tomography showed atelectasis of the left upper and lower lobes due to bronchial stenosis located 2 cm from the carina. The patient’s mother was consulted again and she remembered a choking fit when the boy was eating a hamburger approximately 2 months previously. In view of suspected foreign body, fiberoptic bronchoscopy (FB) was performed revealing a foreign body in the left main bronchus. Multiple fragments (Fig. 1B and C) were extracted by rigid bronchoscopy (RB). Two weeks later, the patient’s situation worsened. FB was repeated, showing fragments of yellowish intrabronchial foreign bodies that were extracted by RB, and on pathological examination were reported to be mucoid, fibrinopurulent material. In view of this, PB was diagnosed and treatment