ABSTRACT
INTRODUCTION: Bone marrow failure (BMF) syndromes are rare disorders with an annual incidence of 2-4 cases per million. Treatment options include immunosuppressive therapy (IST) and hematopoietic stem cell transplantation (HSCT). OBJECTIVE: To analyze the outcomes of pediatric patients diagnosed with BMF treated in a tertiary care center. PATIENTS AND METHOD: Retrospective study of pediatric patients diagnosed with BMF who consulted at Fundación Valle de Lili, Cali. Descriptive statistical analysis was performed according to Acquired BMF (ABMF) and Inherited BMF (IBMF). The outcomes include treatment, complications, overall survival (OS) in transplant patients, calculated using the Kaplan Meier method. RESULTS: We included 24 patients with BMF, average age 6.5 ± 4 years, and 50% were women. 58% presented IBMF, 9 with Fanconi anemia (FA), 2 dyskeratosis congenita, 2 congenital amegakaryocytic thrombocytopenia, and 1 presented Diamond-Blackfan anemia. 12 patients treated with HSCT had a 5-year OS of 83%. ABMF represented 42%. 6 patients received IST-HSCT, 3 received IST, and 1 received HSCT. The OS of the IST-HSCT group was 86%. Six patients died, four of them related to infection. CONCLUSIONS: In this series, there was a higher number of cases with IBMF. The OS of patients treated with HSCT is similar to that reported in recent studies. The most frequent cause of death was of infectious origin which has also been previously reported. The treatment esta blished in the patients showed favorable results in a Latin American tertiary care center.
Subject(s)
Bone Marrow Failure Disorders/therapy , Hematopoietic Stem Cell Transplantation , Immunosuppressive Agents/therapeutic use , Adolescent , Bone Marrow Failure Disorders/complications , Bone Marrow Failure Disorders/diagnosis , Bone Marrow Failure Disorders/mortality , Child , Child, Preschool , Colombia , Combined Modality Therapy , Female , Humans , Infant , Infant, Newborn , Kaplan-Meier Estimate , Male , Retrospective Studies , Survival Rate , Tertiary Care Centers , Treatment OutcomeABSTRACT
BACKGROUND: Liver transplantation in pediatric patients is a crucial intervention for treating end-stage hepatic diseases. Despite significant advances in surgical techniques and postoperative care, complications remain a substantial challenge in this population. Biliary stones, an infrequent complication, present challenges in this context. Given the impossibility of endoscopic treatments, different strategies have been explored to address post-liver transplantation gallstones in children by implementing percutaneous treatment with intraductal lithotripsy. CASE PRESENTATION: A 7-year-old Latin patient, who had a diagnosis of biliary atresia at the age of 2, underwent a liver transplant from a living donor. However, 4 months after the transplant, the patient experienced recurring episodes of cholangitis. Cholangioresonance revealed intrahepatic lithiasis and anastomotic stenosis. Attempted gallstone removal through percutaneous cholangiography proved unsuccessful, as multiple peripheral stones in all ducts remained immobile. Subsequently, a percutaneous endoscopic cholangioscopy using the SpyGlass Discover system for visual examination of the bile ducts + electrohydraulic lithotripsy was performed, effectively removing the stones without any complications. CONCLUSIONS: Percutaneous cholangioscopy with intraductal lithotripsy enables accurate identification and extraction of intrahepatic stones without the need for surgical intervention. This method proves to be a valuable alternative in addressing post-transplant biliary stone. In our case, it was performed on a pediatric patient who underwent liver transplantation, which makes it interesting and relevant as there is currently insufficient literature on this approach in such cases in this population.
Subject(s)
Lithotripsy , Liver Transplantation , Humans , Liver Transplantation/adverse effects , Lithotripsy/methods , Child , Biliary Atresia/surgery , Biliary Atresia/therapy , Endoscopy, Digestive System/methods , Gallstones/therapy , Gallstones/surgery , Gallstones/diagnostic imaging , Male , Postoperative Complications/therapy , Treatment Outcome , Cholangiopancreatography, Endoscopic Retrograde , FemaleABSTRACT
INTRODUCCIÓN: Los síndromes de falla medular (SFM) son trastornos infrecuentes, con una incidencia anual de 2-4 casos por millón. Las opciones de tratamiento incluyen terapia de inmunosupresión (TIS) y restaura ción de la hematopoyesis con trasplante de progenitores hematopoyéticas (TPH). OBJETIVO: Analizar los desenlaces de pacientes pediátricos diagnosticados con SFM tratados en una institución de alta complejidad. PACIENTES Y MÉTODO: Estudio retrospectivo de pacientes pediátricos con diagnóstico de SFM que consultaron a la Fundación Valle del Lili, Cali. Se realizo análisis estadístico descriptivo según SFM adquirida (SFMA) y SFM congénita (SFMC). Los desenlaces incluyeron: tratamiento, complicaciones, supervivencia global (SG) en los trasplantados, calculada con el método Kaplan Meier. RESULTADOS: Se incluyeron 24 pacientes con SFM, edad 6,5 ± 4 años, 50% mujeres. El 58% fue ron SFMC, 9 con anemia de Fanconi, 2 disqueratosis congénita, 2 trombocitopenia amegacariocítica congénita, uno anemia Diamond-Blackfan. Doce pacientes con TPH tuvieron SG a 5 años de 83%. SFMA correspondió al 42%, 6 recibieron TIS-TPH, 3 TIS y 1 TPH, la SG del grupo con TIS-TPH fue 86%. Seis pacientes fallecieron, 4/6 relacionadas con infección. CONCLUSIONES: En esta serie fue mayor el número de casos con SFMC. La SG de los pacientes llevados a TPH es comparable con la reportada en estudios recientes. La causa de muerte predominante fue infecciosa que también se ha reportado previamente. El tratamiento instaurado en los pacientes de esta serie mostró resultados favorables en un centro de alta complejidad en un país latinoamericano.
INTRODUCTION: Bone marrow failure (BMF) syndromes are rare disorders with an annual incidence of 2-4 cases per million. Treatment options include immunosuppressive therapy (IST) and hematopoietic stem cell transplantation (HSCT). OBJECTIVE: To analyze the outcomes of pediatric patients diagnosed with BMF treated in a tertiary care center. PATIENTS AND METHODP: Retrospective study of pediatric patients diagnosed with BMF who consulted at Fundación Valle de Lili, Cali. Descriptive statistical analysis was performed according to Acquired BMF (ABMF) and Inherited BMF (IBMF). The outcomes include treatment, complications, overall survival (OS) in transplant patients, calculated using the Kaplan Meier method. RESULTS: We included 24 patients with BMF, average age 6.5 ± 4 years, and 50% were women. 58% presented IBMF, 9 with Fanconi anemia (FA), 2 dyskeratosis congenita, 2 congenital amegakaryocytic thrombocytopenia, and 1 presented Diamond-Blackfan anemia. 12 patients treated with HSCT had a 5-year OS of 83%. ABMF represented 42%. 6 patients received IST-HSCT, 3 received IST, and 1 received HSCT. The OS of the IST-HSCT group was 86%. Six patients died, four of them related to infection. CONCLUSIONS: In this series, there was a higher number of cases with IBMF. The OS of patients treated with HSCT is similar to that reported in recent studies. The most frequent cause of death was of infectious origin which has also been previously reported. The treatment esta blished in the patients showed favorable results in a Latin American tertiary care center.