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A mysterious cause of recurrent acute liver dysfunction for over a decade

Gastroenterology Report 2022年第1期10卷 622-624页

作者： Ahmet Burak Dirim Tugba Kalayci Merve Guzel Dirim Semra Demir Bilger Cavus Asli Cifcibasi Ormeci Filiz Akyuz Sabahattin Kaymakoglu Division of Nephrology Department of Internal MedicineIstanbul Faculty of MedicineIstanbul UniversityIstanbulTurkey Division of Medical Genetics Department of Internal MedicineIstanbul Faculty of MedicineIstanbul UniversityIstanbulTurkey Department of Internal Medicine Istanbul Faculty of MedicineIstanbul UniversityIstanbulTurkey Division of Allergy and Immunology Department of Internal MedicineIstanbul Faculty of MedicineIstanbul UniversityIstanbulTurkey Division of Gastroenterology Department of Internal MedicineIstanbul Faculty of MedicineIstanbul UniversityIstanbulTurkey

Introduction Acute liver failure(ALF)is an uncommon disease in pediatric cases.Etiology includes infections,autoimmune diseases,inborn errors of metabolism,and intoxications.Metabolic disorders account for 25%of resolved cases.However,the etiology remains unknown in half of pediatric ALF[1].The recognition of molecular etiopathogenesis has been facilitated after the common use of next-generation sequencing techniques.Recently,biallelic variants in neuroblastoma-amplified sequence(NBAS),Leucyl-tRNA synthetase 1(LARS1),and RAD50-interacting protein(RINT1)were identified in recurrent ALF(RALF)[2–4].

关键词： recurrent acute liver failure NBAS(neuroblastoma-amplified sequence) immunodysregulation clinical exome sequencing

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Druggable monogenic immune defects hidden in diverse medical specialties:Focus on overlap syndromes

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World Journal of Clinical Pediatrics 2022年第2期11卷 136-150页

作者： Valentina Boz Chiara Zanchi Laura Levantino Guglielmo Riccio Alberto Tommasini Department of Medical Surgical and Health SciencesUniversity of TriesteTrieste 34137Italy Department of Pediatrics Institute for Maternal and Child HealthIRCCS Burlo GarofoloTrieste 34137Italy

In the last two decades two new paradigms changed our way of perceiving primary immunodeficiencies:An increasing number of immune defects are more associated with inflammatory or autoimmune features rather than with infections.Some primary immune defects are due to hyperactive pathways that can be targeted by specific inhibitors,providing innovative precision treatments that can change the natural history of diseases.In this article we review some of these“druggable”inborn errors of immunity and describe how they can be suspected and diagnosed in diverse pediatric and adult medicine specialties.Since the availability of precision treatments can dramatically impact the course of these diseases,preventing the development of organ damage,it is crucial to widen the awareness of these conditions and to provide practical hints for a prompt detection and cure.

关键词： Inborn errors of immunity Primary immunodeficiency diseases Precision treatments immunodysregulation Autoimmunity Overlap syndromes

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Early postsurgical lethal outcome due to splenic littoral cell angioma:A case report

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World Journal of Clinical Cases 2023年第5期11卷 1188-1197页

作者： Fan Jia Han Lin Yi-Long Li Jin-Ling Zhang Liang Tang Peng-Tian Lu Yu-Qing Wang Yi-Feng Cui Xiu-Hua Yang Zhao-Yang Lu Department of Abdominal Ultrasound First Affiliated Hospital of Harbin Medical UniversityHarbin 150001Heilongjiang ProvinceChina Department of Hepatic Surgery Key Laboratory of Hepatosplenic SurgeryMinistry of EducationThe First Affiliated Hospital of Harbin Medical UniversityHarbin 150001Heilongjiang ProvinceChina Department of Pancreatic and Biliary Surgery Key Laboratory of Hepatosplenic SurgeryMinistry of EducationThe First Affiliated Hospital of Harbin Medical UniversityHarbin 150001Heilongjiang ProvinceChina Department of Radiology and Nuclear Medicine The First Affiliated Hospital of Harbin Medical UniversityHarbin 150001Heilongjiang ProvinceChina Department of Pathology The First Affiliated Hospital of Harbin Medical UniversityHarbin 150001Heilongjiang ProvinceChina Department of Hematopathology First Affiliated Hospital of Harbin Medical UniversityHarbin 150001Heilongjiang ProvinceChina

BACKGROUND Littoral cell angioma(LCA)is a rare benign vascular tumor of the spleen.Given its rarity,standard diagnostic and therapeutic recommendations have yet to be developed for reported cases.Splenectomy is the only method of obtaining a pathological diagnosis and providing treatment to obtain a favorable prognosis.CASE SUMMARY A 33-year-old female presented with abdominal pain for one month.Computed tomography and ultrasound revealed splenomegaly with multiple lesions and two accessory spleens.The patient underwent laparoscopic total splenectomy and accessory splenectomy,and splenic LCA was confirmed by pathology.Four months after surgery,the patient presented with acute liver failure,was readmitted,rapidly progressed to multiple organ dysfunction syndrome and died.CONCLUSION Preoperative diagnosis of LCA is challenging.We systematically reviewed online databases to identify the relevant literature and found a close relationship between malignancy and immunodysregulation.When a patient suffers from both splenic tumors and malignancy or immune-related disease,LCA is possible.Due to potential malignancy,total splenectomy(including accessory spleen)and regular follow-up after surgery are recommended.If LCA is diagnosed after surgery,a comprehensive postoperative examination is needed.

关键词： Littoral cell angioma Imaging features Malignancy immunodysregulation Treatment Case report

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