RESUMO
BACKGROUND: This case report describes a child born with both cystic fibrosis (CF) and alpha-1 antitrypsin deficiency (A1ATD). Both are autosomal recessive inherited diseases, mainly affecting the lungs and the liver. The combination of both diseases together is rare and may lead to a fulminant disease with limited life span. To the best of our knowledge, no case has been reported of a patient born with both diseases. CASE PRESENTATION: After an uneventful pregnancy, a male baby was born with meconium ileus. The suspected diagnosis of CF was confirmed based on the sweat test and genetic analysis. The child developed persisting cholestasis, too severe to be likely caused by CF alone and indicating an associated problem. The diagnosis of A1ATD was established based on clinical suspicion (persisting cholestasis), decreased serum alpha-1 antitrypsin and genetic analysis. Supportive therapy was started, however the boy evolved to rapidly progressive liver disease leading to liver failure which necessitated an infant liver transplantation. CONCLUSIONS: This case illustrates the complexity of care in case of two severe inherited diseases as well as post solid organ transplant care.
Assuntos
Colestase , Fibrose Cística , Transplante de Fígado , Deficiência de alfa 1-Antitripsina , Criança , Fibrose Cística/complicações , Fibrose Cística/diagnóstico , Fibrose Cística/genética , Humanos , Lactente , Masculino , Deficiência de alfa 1-Antitripsina/complicações , Deficiência de alfa 1-Antitripsina/diagnóstico , Deficiência de alfa 1-Antitripsina/genéticaRESUMO
Fibrosis, neurodegeneration, and cerebral angiomatosis (FINCA, MIM#618278) is a rare clinical condition caused by bi-allelic variants in NHL repeat containing protein 2 (NHLRC2, MIM*618277). Pulmonary disease may be the presenting sign and the few patients reported so far, all deceased in early infancy. Exome sequencing was performed on patients with childhood interstitial lung disease (chILD) and additional neurological features. The chILD-EU register database and an in-house database were searched for patients with NHLRC2 variants and clinical features overlapping FINCA syndrome. Six patients from three families were identified with bi-allelic variants in NHLRC2. Two of these children died before the age of two while four others survived until childhood. Interstitial lung disease was pronounced in almost all patients during infancy and stabilized over the course of the disease with neurodevelopmental delay (NDD) evolving as the key clinical finding. We expand the phenotype of FINCA syndrome to a multisystem disorder with variable severity. FINCA syndrome should also be considered in patients beyond infancy with NDD and a history of distinct interstitial lung disease. Managing patients in registers for rare diseases helps identifying new diagnostic entities and advancing care for these patients.
Assuntos
Angiomatose/diagnóstico , Angiomatose/genética , Fibrose/diagnóstico , Fibrose/genética , Doenças Neurodegenerativas/diagnóstico , Doenças Neurodegenerativas/genética , Fenótipo , Alelos , Biópsia , Fácies , Feminino , Predisposição Genética para Doença , Genótipo , Humanos , Imuno-Histoquímica , Lactente , Recém-Nascido , Peptídeos e Proteínas de Sinalização Intracelular/genética , Masculino , Radiografia , Síndrome , Tomografia Computadorizada por Raios XRESUMO
BACKGROUND: Melody valved stents (Medtronic Inc, Minneapolis, Minnesota, USA) have become a very competitive therapeutic option for pulmonary valve replacement in patients with congenital heart disease. After adequate prestenting of the right ventricular outflow tract (RVOT) Melody valved stents have a good medium term functional result but are exposed to infective endocarditis (IE). PATIENTS AND METHODS: Retrospective study of tertiary centre Congenital Heart Disease database; to compare incidence of IE in three different types of valved conduits in RVOT: Melody valved stent, cryopreserved homograft (European Homograft Bank) and Contegra graft (Medtronic Inc). RESULTS: Between 1989 and 2013, 738 conduits were implanted in 677 patients. 107 Melody valved stents were implanted in 107 patients; IE occurred in 8 (7.5%) patients during a follow-up of 2.0â years (IQR 2.4â years, range 0.3-7.8â years). 577 Homografts were implanted in 517 patients; IE occurred in 14 patients (2.4%) during a median follow-up of 6.5â years (IQR 9.2â years; range 0.1-23.7â years). Finally, 54 Contegra grafts were implanted in 53 patients; 11 patients (20.4%) had IE during a follow-up of 8.8â years (IQR 7.7â years; range 0.2-3.5â years). Survival free of IE by Kaplan-Meier for homografts was 98.7% at 5â years and 97.3% at 10â years; for Contegra 87.8% at 5â years and 77.3% at 10â years and for Melody 84.9% at 5â years (log-rank test; p<0.001). CONCLUSIONS: The Contegra conduit and Melody valved stents have a significantly higher incidence of IE than homografts. IE is a significant threat for long-term conduit function.