Fernanda de S Nascimento1, Nelson A Sena2, Tatiane da A Ferreira3, Cibele D F Marques4, Luciana R Silva5, Edna Lúcia Souza6. 1. Complexo Hospitalar Professor Edgard Santos, Salvador, BA, Brazil. 2. Universidade Federal da Bahia (UFBA), Salvador, BA, Brazil. 3. Complexo Hospitalar Professor Edgard Santos, Serviço de Pneumologia Pediátrica, Salvador, BA, Brazil. 4. Universidade Federal da Bahia (UFBA), Faculdade de Medicina, Salvador, BA, Brazil; Complexo Hospitalar Professor Edgard Santos, Programa de Residência Médica em Gastropediatria, Salvador, BA, Brazil. 5. Universidade Federal da Bahia (UFBA), Serviço de Gastroenterologia e Hepatologia, Salvador, BA, Brazil. 6. Universidade Federal da Bahia (UFBA), Salvador, BA, Brazil; Universidade Federal da Bahia (UFBA), Faculdade de Medicina, Departamento de Pediatria, Salvador, BA, Brazil. Electronic address: souza.ednalucia@gmail.com.
Abstract
OBJECTIVES: The aims of the study were to determine the frequency of hepatobiliary disease in patients with cystic fibrosis and to describe the sociodemographic, clinical, and laboratory profile of these patients. METHODS: This was a retrospective, descriptive, and analytical study of 55 patients diagnosed with cystic fibrosis, aged between 3 months and 21 years, followed-up from January 2008 to June 2016 in a referral center. Medical records were consulted and sociodemographic, clinical and laboratory data, including hepatobiliary alterations, imaging studies, genetic studies, liver biopsies, and upper digestive endoscopies were registered. RESULTS: Hepatobiliary disease was diagnosed in 16.4% of the patients and occurred as an initial manifestation of cystic fibrosis in 55.6% of these cases. The diagnosis of hepatopathy occurred before or concomitantly with the diagnosis of cystic fibrosis in 88.9% of the children. All patients with hepatobiliary disease were considered non-white, with a predominance of females (77.8%) and median (IQR) of 54 (27-91) months. Compared with the group without hepatobiliary disease, children with liver disease had a higher frequency of severe mutations identified in the CFTR gene (77.8% vs. 39.6%, p=0.033) and severe pancreatic insufficiency (88.9% vs. 31.6%, p=0.007). CONCLUSION: The frequency of hepatobiliary disease was high, with a very early diagnosis of the disease and its complications in the studied series. A statistical association was observed between the occurrence of hepatobiliary disease and the presence of pancreatic insufficiency and severe mutations in the CFTR gene. It is emphasized that cystic fibrosis is an important differential diagnosis of liver diseases in childhood.
OBJECTIVES: The aims of the study were to determine the frequency of hepatobiliary disease in patients with cystic fibrosis and to describe the sociodemographic, clinical, and laboratory profile of these patients. METHODS: This was a retrospective, descriptive, and analytical study of 55 patients diagnosed with cystic fibrosis, aged between 3 months and 21 years, followed-up from January 2008 to June 2016 in a referral center. Medical records were consulted and sociodemographic, clinical and laboratory data, including hepatobiliary alterations, imaging studies, genetic studies, liver biopsies, and upper digestive endoscopies were registered. RESULTS:Hepatobiliary disease was diagnosed in 16.4% of the patients and occurred as an initial manifestation of cystic fibrosis in 55.6% of these cases. The diagnosis of hepatopathy occurred before or concomitantly with the diagnosis of cystic fibrosis in 88.9% of the children. All patients with hepatobiliary disease were considered non-white, with a predominance of females (77.8%) and median (IQR) of 54 (27-91) months. Compared with the group without hepatobiliary disease, children with liver disease had a higher frequency of severe mutations identified in the CFTR gene (77.8% vs. 39.6%, p=0.033) and severe pancreatic insufficiency (88.9% vs. 31.6%, p=0.007). CONCLUSION: The frequency of hepatobiliary disease was high, with a very early diagnosis of the disease and its complications in the studied series. A statistical association was observed between the occurrence of hepatobiliary disease and the presence of pancreatic insufficiency and severe mutations in the CFTR gene. It is emphasized that cystic fibrosis is an important differential diagnosis of liver diseases in childhood.
Authors: Marilyn J Siegel; A Jay Freeman; Wen Ye; Joseph J Palermo; Jean P Molleston; Shruti M Paranjape; Janis Stoll; Daniel H Leung; Prakash Masand; Boaz Karmazyn; Roger Harned; Simon C Ling; Oscar M Navarro; Wikrom Karnsakul; Adina Alazraki; Sarah Jane Schwarzenberg; Frank Glen Seidel; Alex Towbin; Estella M Alonso; Jennifer L Nicholas; Karen F Murray; Randolph K Otto; Averell H Sherker; John C Magee; Michael R Narkewicz Journal: J Pediatr Date: 2020-02-12 Impact factor: 4.406
Authors: Ana Luiza Melo Dos Santos; Helen de Melo Santos; Marina Bettiol Nogueira; Hugo Tadashi Oshiro Távora; Maria de Lourdes Jaborandy Paim da Cunha; Renata Belém Pessoa de Melo Seixas; Luciana de Freitas Velloso Monte; Elisa de Carvalho Journal: Pediatr Gastroenterol Hepatol Nutr Date: 2018-10-10