RESUMEN
The loss of function (LOF) due to mutations in the Filamin A (FLNA) gene may result in abnormality of the FLNA protein. Of the many clinical syndromes, this condition may produce chronic lung disease, which usually presents and is diagnosed in the infant/toddler age group. Its clinical pattern may mimic broncho-pulmonary dysplasia. It is part of the entities included in childhood interstitial lung disease group of disorders. We are herein reporting a patient that was diagnosed with FLNA-associated lung disease at 11 years of age. This case provides a unique insight into the long-term course of lung disease in this illness and broadens our understanding of the spectrum of its presentation. Although the patient had symptoms early in life, the diagnosis was not entertained because of the rarity of the disorder, its atypical and clinically mild presentation, and discontinuous care due to parents moving to different cities for employment reasons. Her presentation to our institution was for pneumonia. Due to highly unusual chest X-ray images, asthenia, and early clubbing, an extensive workup included further imaging and a lung biopsy. The final diagnosis was confirmed by the detection of FLNA LOF gene mutation.
Asunto(s)
Enfermedades Pulmonares Intersticiales , Humanos , Lactante , Femenino , Niño , Filaminas/genética , Mutación , Enfermedades Pulmonares Intersticiales/diagnóstico por imagen , Enfermedades Pulmonares Intersticiales/genética , Pulmón/patología , BiopsiaRESUMEN
INTRODUCTION: Hemoptysis in children is an uncommon presenting symptom but can be life-threatening if massive. Cardiac catheterization and coil embolization of aorto-pulmonary collateral vessels (APCs) is uncommon in pediatric hemoptysis patients without congenital heart disease. METHODS: We present a series of seven infants (≤12 months of age) with hemoptysis, all of whom underwent cardiac catheterization to look for and intervene upon APCs, if found. Only those patients who underwent both bronchoscopy as well as cardiac catheterization from January 1995 to January 2015 were included in this retrospective review. RESULTS: Seven patients met inclusion criteria, and three had a history of recurrent hemoptysis. The mean age was 3 months. Four had evidence of bleeding on bronchoscopy. All seven had respiratory distress which necessitated ICU admission; five required mechanical ventilation. Cardiac catheterization showed significant APCs (>2 mm) in six of the seven studied patients, all of which were coil embolized. One patient had no significant APCs and therefore, no embolization. All patients had complete resolution with no recurrences during the 10-20-year outpatient follow-up period. Chest CT scans were not helpful in delineating the site or etiology of bleeding in any patient. CONCLUSIONS: APCs should be considered as a differential diagnosis for pulmonary hemorrhage in infants after more common causes have been ruled out.
Asunto(s)
Broncoscopía , Cateterismo Cardíaco , Cardiopatías Congénitas/diagnóstico , Hemoptisis/diagnóstico , Hemoptisis/terapia , Diagnóstico Diferencial , Femenino , Hemoptisis/etiología , Humanos , Lactante , Masculino , Recurrencia , Estudios RetrospectivosAsunto(s)
Inmunodeficiencia Variable Común/complicaciones , Inmunodeficiencia Variable Común/epidemiología , Enfermedades Pulmonares/epidemiología , Enfermedades Pulmonares/etiología , Pautas de la Práctica en Medicina , Terapia Combinada , Manejo de la Enfermedad , Encuestas de Atención de la Salud , Humanos , Internet , Enfermedades Pulmonares/diagnóstico , Enfermedades Pulmonares/terapia , Pautas de la Práctica en Medicina/estadística & datos numéricos , Pruebas de Función Respiratoria , Tomografía Computarizada por Rayos X , Resultado del TratamientoRESUMEN
BACKGROUND: Autosomal dominant hyper-IgE syndrome (AD-HIES) is a rare condition. OBJECTIVE: Data from the USIDNET Registry provide a resource to examine the characteristics of patients with rare immune deficiency diseases. METHODS: A query was submitted to the USIDNET requesting deidentified data for patients with physician-diagnosed AD-HIES through July 2016. RESULTS: Data on 85 patients diagnosed with AD-HIES (50 males; 35 females) born between 1950 and 2013, collected by 14 physicians from 25 states and Quebec, were entered into the USIDNET Registry by July 2016. Cumulative follow-up was 2157 years. Of these patients, 45.9% had a family history of HIES. The complications reported included skin abscesses (74.4%), eczema (57.7%), retained primary teeth (41.4%), fractures (39%), scoliosis (34.1%), and cancer (7%). Reported allergic diseases included food (37.8%), environmental (18%), and drugs (42.7%). The mean serum IgE level was 8383.7 kU/mL and was inversely correlated to the patient's age. A total of 49.4% had eosinophilia; 56% were known to be on trimethoprim-sulfamethoxazole, 26.6% on antifungal coverage, and 30.6% on immunoglobulin replacement therapy. Pneumonias were more commonly attributed to Staphylococcus aureus (55.3%) or Aspergillus fumigatus (22.4%); 19.5% had a history of lung abscess; these were most often associated with Pseudomonas aeruginosa (P Fisher's exact test = .029) or A. fumigatus (P Fisher's exact test = .016). Lung abscesses were significantly associated with drug reactions (P χ2 = .01; odds ratio: 4.03 [1.2-12.97]), depression (P Fisher's exact test = .036), and lower Karnofsky index scores (P Mann-Whitney = .007). DISCUSSION: Data from the USIDNET Registry summarize the currently reported clinical characteristics of a large cohort of subjects with AD-HIES.
Asunto(s)
Aspergillus fumigatus/fisiología , Hipersensibilidad a las Drogas/epidemiología , Hipersensibilidad a los Alimentos/epidemiología , Síndrome de Job/inmunología , Pseudomonas aeruginosa/fisiología , Sistema de Registros , Infecciones del Sistema Respiratorio/epidemiología , Piel/patología , Staphylococcus aureus/fisiología , Diente/patología , Adolescente , Adulto , Anciano , Niño , Preescolar , Eosinofilia , Femenino , Estudios de Seguimiento , Humanos , Inmunoglobulina E/sangre , Síndrome de Job/epidemiología , Masculino , Anamnesis , Persona de Mediana Edad , Quebec/epidemiología , Adulto JovenRESUMEN
BACKGROUND: The time from symptom onset to diagnosis for patients with primary immunodeficiency diseases (PIDD) is an average of 12 years, but prompt diagnosis and treatment can promote best outcomes. OBJECTIVE: Because the manifestations of PIDD are often sinopulmonary in nature, patients with undiagnosed PIDD are frequently referred to pulmonologists. This study sought to identify opportunities among these specialists to improve diagnosis and clinical management of patients with PIDD. METHODS: A survey was sent to American Medical Association and American Osteopathic Association members whose specialty was pulmonology. Responses were compared with those from a historical survey of 71 subspecialist immunologists (American Academy of Allergy, Asthma Immunology members who devoted 10% of their practice to patients with PIDD). RESULTS: The surveys were returned by 485 pulmonologists, 49% of whom had diagnosed at least one patient with PIDD. In comparison with subspecialist immunologists, fewer pulmonologists were aware of the professional PIDD diagnosis and management guidelines and fewer followed up patients with various PIDDs. Pulmonologists and subspecialist immunologists also differed in the practice of prescribing prophylactic antibiotics and immunoglobulin replacement and in avoiding live viral vaccines. CONCLUSION: Differences in the diagnosis and treatment of patients with PIDD between these two groups of specialists revealed areas in which PIDD-focused educational initiatives may be helpful for pulmonologists.
Asunto(s)
Síndromes de Inmunodeficiencia/diagnóstico , Síndromes de Inmunodeficiencia/terapia , Neumólogos , Encuestas y Cuestionarios , Competencia Clínica , Manejo de la Enfermedad , Femenino , Humanos , Masculino , Pautas de la Práctica en MedicinaRESUMEN
Hemoptysis in the children is a rare but serious diagnosis and is even more uncommon in infancy. Mortality is reported and depends on associated illnesses, underlying etiology, and amount of bleeding. A 4-month-old patient presented with significant hemoptysis. Flexible bronchoscopy with differential lavage confirmed the presence and site of origin of hemoptysis. She was managed with cardiac catheterization for embolization of an aorto-pulmonary collateral vessel with immediate complete resolution and no further recurrences. This highlights the importance of cardiac catheterization to detect collateral vessels as a cause for hemoptysis at this age and its successful resolution following embolization. Pediatr Pulmonol. 2016; 51:E31-E33. © 2016 Wiley Periodicals, Inc.
Asunto(s)
Aorta/fisiopatología , Circulación Colateral , Embolización Terapéutica , Hemoptisis/etiología , Hemoptisis/terapia , Arteria Pulmonar/fisiopatología , Broncoscopía , Cateterismo Cardíaco , Femenino , Hemoptisis/diagnóstico , Humanos , LactanteRESUMEN
Patients with mutations of the recombination-activating genes (RAG) present with diverse clinical phenotypes, including severe combined immune deficiency (SCID), autoimmunity, and inflammation. However, the incidence and extent of immune dysregulation in RAG-dependent immunodeficiency have not been studied in detail. Here, we have demonstrated that patients with hypomorphic RAG mutations, especially those with delayed-onset combined immune deficiency and granulomatous/autoimmune manifestations (CID-G/AI), produce a broad spectrum of autoantibodies. Neutralizing anti-IFN-α or anti-IFN-ω antibodies were present at detectable levels in patients with CID-G/AI who had a history of severe viral infections. As this autoantibody profile is not observed in a wide range of other primary immunodeficiencies, we hypothesized that recurrent or chronic viral infections may precipitate or aggravate immune dysregulation in RAG-deficient hosts. We repeatedly challenged Rag1S723C/S723C mice, which serve as a model of leaky SCID, with agonists of the virus-recognizing receptors TLR3/MDA5, TLR7/-8, and TLR9 and found that this treatment elicits autoantibody production. Altogether, our data demonstrate that immune dysregulation is an integral aspect of RAG-associated immunodeficiency and indicate that environmental triggers may modulate the phenotypic expression of autoimmune manifestations.
Asunto(s)
Autoanticuerpos/inmunología , Autoantígenos/inmunología , Enfermedades Autoinmunes/inmunología , Citocinas/inmunología , Proteínas de Unión al ADN/deficiencia , Enfermedad Granulomatosa Crónica/inmunología , Proteínas de Homeodominio/inmunología , Proteínas Nucleares/deficiencia , Inmunodeficiencia Combinada Grave/inmunología , Adolescente , Adulto , Animales , Anticuerpos Neutralizantes/sangre , Anticuerpos Neutralizantes/inmunología , Especificidad de Anticuerpos , Autoanticuerpos/sangre , Enfermedades Autoinmunes/genética , Niño , Preescolar , ARN Helicasas DEAD-box/inmunología , Proteínas de Unión al ADN/genética , Modelos Animales de Enfermedad , Femenino , Enfermedad Granulomatosa Crónica/genética , Enfermedad Granulomatosa Crónica/terapia , Proteínas de Homeodominio/genética , Humanos , Lactante , Helicasa Inducida por Interferón IFIH1 , Masculino , Ratones , Ratones Endogámicos , Proteínas Nucleares/genética , Inmunodeficiencia Combinada Grave/genética , Inmunodeficiencia Combinada Grave/terapia , Receptores Toll-Like/agonistas , Receptores Toll-Like/inmunología , Virosis/inmunología , Adulto JovenAsunto(s)
Dolor Abdominal/etiología , Infecciones por Chlamydia/diagnóstico , Quiste del Colédoco/diagnóstico por imagen , Insuficiencia de Crecimiento/etiología , Hepatitis/diagnóstico , Hiperbilirrubinemia/etiología , Enfermedad Inflamatoria Pélvica/diagnóstico , Peritonitis/diagnóstico , Inmunodeficiencia Combinada Grave/diagnóstico , Adolescente , Antibacterianos/uso terapéutico , Infecciones por Chlamydia/complicaciones , Infecciones por Chlamydia/tratamiento farmacológico , Quiste del Colédoco/cirugía , Diagnóstico Diferencial , Doxiciclina/uso terapéutico , Femenino , Hepatitis/complicaciones , Hepatitis/tratamiento farmacológico , Humanos , Lactante , Masculino , Enfermedad Inflamatoria Pélvica/complicaciones , Enfermedad Inflamatoria Pélvica/tratamiento farmacológico , Peritonitis/complicaciones , Peritonitis/tratamiento farmacológico , Inmunodeficiencia Combinada Grave/terapia , UltrasonografíaRESUMEN
DiGeorge syndrome is associated with a T-lymphocyte immunodeficiency. The prevalence of hypogammaglobulinemia has not been reported. We found that 3% of patients with DiGeorge syndrome were receiving immunoglobulin replacement therapy and 6% of patients over the age of 3 years had hypogammaglobulinemia. We conclude that DiGeorge syndrome is associated with significant humoral immune deficiency.
Asunto(s)
Linfocitos B/citología , Síndrome de DiGeorge/diagnóstico , Deficiencia de IgA/diagnóstico , Adolescente , Adulto , Niño , Preescolar , Estudios de Cohortes , Síndrome de DiGeorge/genética , Europa (Continente) , Humanos , Deficiencia de IgA/sangre , Inmunoglobulina A/metabolismo , Inmunoglobulina G/metabolismo , Inmunoglobulina M/metabolismo , Inmunoglobulinas/metabolismo , Lactante , Recién Nacido , Persona de Mediana Edad , Prevalencia , Sistema de Registros , Linfocitos T/citología , Estados UnidosRESUMEN
CONTEXT: The presence of iron or hemosiderin in macrophages obtained in routine bronchoalveolar lavage is considered crucial in the diagnosis of the clinical syndrome of hemosiderosis. However, there do not appear to be any data on the sensitivity and specificity of the finding of hemosiderin-laden macrophages (HLMs) in bronchoalveolar lavage in children. OBJECTIVE: To review data from bronchoalveolar lavage studies done in children to correlate the presence of HLMs with pneumonia and hemosiderosis and to determine what proportion of HLMs has the optimal sensitivity and specificity for the diagnosis of hemosiderosis. DESIGN: One hundred ten bronchoalveolar lavage specimens obtained via flexible bronchoscopy were reviewed retrospectively. The data collected for demographics, indication for the bronchoscopy, diagnosis of pneumonia, anemia, and bronchoscopy and bronchoalveolar lavage findings were compared between patients diagnosed with hemosiderosis and those diagnosed with other diseases. RESULTS: Six patients were diagnosed with hemosiderosis by clinical findings, lung biopsy, or autopsy. There were no statistical differences in pneumonia (P > .99), anemia (P > .99), or coughing (P = .08) between patients with hemosiderosis and other patients. Hemoptysis was the only symptom that was significantly different between the 2 groups (P = .04). The mean HLM index for patients with hemosiderosis was 56% +/- 16.17% and for other patients, 7.5% +/- 10.74% (P < .001). A HLM index of 35% gave a sensitivity of 1% and a specificity of .96%. CONCLUSIONS: These results confirm a strong association between HLM index and diagnosis of hemosiderosis in a pediatric population. Availability of this HLM index will result in accurate and timely diagnosis of pulmonary hemosiderosis, which may influence treatment and long-term prognosis.
Asunto(s)
Líquido del Lavado Bronquioalveolar/citología , Hemosiderina/metabolismo , Hemosiderosis/diagnóstico , Enfermedades Pulmonares/diagnóstico , Macrófagos/metabolismo , Adolescente , Anemia/complicaciones , Broncoscopía , Niño , Preescolar , Tos/etiología , Hemoptisis/etiología , Hemosiderosis/complicaciones , Humanos , Lactante , Enfermedades Pulmonares/complicaciones , Neumonía/complicaciones , Estudios Retrospectivos , Sensibilidad y EspecificidadRESUMEN
OBJECTIVE: To report the successful treatment of plastic bronchitis with aerosolized tissue plasminogen activator. DESIGN: Case report. PATIENTS: A 4-yr-old boy with congenital heart disease, who developed plastic bronchitis 33 months after a Fontan operation INTERVENTIONS: Long-term treatment with aerosolized tissue plasminogen activator. MEASUREMENTS AND MAIN RESULTS: We describe the case of a boy who developed recurrent episodes of life-threatening airway obstruction secondary to plastic bronchitis. Following the failure of multiple therapeutic interventions, his condition improved significantly with aerosolized tissue plasminogen activator. Several attempts to wean him off this treatment resulted in clinical deterioration. He has remained on long-term aerosolized tissue plasminogen activator. CONCLUSION: Treatment of plastic bronchitis with aerosolized tissue plasminogen activator may benefit patients in whom other therapies have failed.
Asunto(s)
Obstrucción de las Vías Aéreas/tratamiento farmacológico , Bronquiolitis Obliterante/tratamiento farmacológico , Bronquiolitis Obliterante/etiología , Procedimiento de Fontan/efectos adversos , Activadores Plasminogénicos/uso terapéutico , Activador de Tejido Plasminógeno/uso terapéutico , Administración por Inhalación , Obstrucción de las Vías Aéreas/etiología , Obstrucción de las Vías Aéreas/patología , Bronquiolitis Obliterante/fisiopatología , Preescolar , Cardiopatías Congénitas/cirugía , Humanos , Masculino , Activadores Plasminogénicos/administración & dosificación , Recurrencia , Activador de Tejido Plasminógeno/administración & dosificación , Resultado del TratamientoRESUMEN
We describe the case of a 10-day-old boy who was brought to the hospital with stridor and respiratory distress. He was diagnosed with stenosis caused by a subglottic cyst. After the cyst was removed endoscopically, the patient's symptoms resolved. Pathology identified the cyst as ectopic thymic tissue. This case is noteworthy because we believe it represents the first reported instance of ectopic thymic tissue in the subglottis.
Asunto(s)
Coristoma/cirugía , Quiste Mediastínico/complicaciones , Quiste Mediastínico/cirugía , Ruidos Respiratorios/etiología , Timo , Coristoma/patología , Humanos , Recién Nacido , Cuidados Intraoperatorios , Laringoscopía/métodos , Laringe , Masculino , Quiste Mediastínico/patología , Cuidados Preoperatorios , Ruidos Respiratorios/diagnósticoRESUMEN
Only two cases of juvenile xanthogranuloma of the larynx have been previously reported in the literature. We report a new case, which occurred in an 18-month-old girl. The patient was brought to us for treatment of stridor and respiratory distress. During examination, she was found to have a subglottic mass. The lesion was treated with laser microlaryngoscopy, which relieved the patient's respiratory distress and obviated the need for tracheotomy. Pathologic examination of the mass revealed that it was consistent with a juvenile xanthogranuloma. Juvenile xanthogranuloma is generally a benign and self-limiting disease, but complications can occur when the space that the tumor occupies causes functional impairment.