The plodding diagnosis of monogenic autoinflammatory diseases in childhood: from the clinical scenery to laboratory investigation

被引：11
|
作者：
Rigante, Donato [1 ]
Capoluongo, Ettore [2 ]
机构：
[1] Univ Cattolica Sacro Cuore, Dept Pediat Sci, I-00168 Rome, Italy
[2] Univ Cattolica Sacro Cuore, Dept Biochem & Clin Biochem, I-00168 Rome, Italy
来源：
CLINICAL CHEMISTRY AND LABORATORY MEDICINE | 2011年 / 49卷 / 05期
关键词：
autoinflammatory disease; child; FAMILIAL MEDITERRANEAN FEVER; MEVALONATE KINASE-DEFICIENCY; CONGENITAL DYSERYTHROPOIETIC ANEMIA; RECURRENT MULTIFOCAL OSTEOMYELITIS; RECEPTOR ANTAGONIST ANAKINRA; PERIODIC SYNDROME TRAPS; QUALITY-OF-LIFE; HYPERIMMUNOGLOBULINEMIA-D; BLAU SYNDROME; FOLLOW-UP;
D O I：
10.1515/CCLM.2011.127
中图分类号：
R446 [实验室诊断]; R-33 [实验医学、医学实验];
学科分类号：
1001 ;
摘要：
Autoinflammatory diseases (AID) are inherited errors of innate immunity which, although individually uncommon, collectively set up an emerging chapter of medicine. Careful analysis and identification of AID is essential to prompt effective treatment and improve survival and quality of life in these patients. Research into pediatric AID is lagging behind studies in adults, though a better understanding of AID in infancy could lead to improved diagnostic protocols and reduce long-term disability. This review provides a detailed summary of monogenic AID in childhood to help pediatricians correctly recognize these conditions and also highlight recent developments in the laboratory diagnostic work-up.
引用
收藏
页码：783 / 791
页数：9
相关论文
共 50 条
  • [21] Diagnosis of monogenic liver diseases in childhood by next-generation sequencing
    Stalke, A.
    Skawran, B.
    Auber, B.
    Illig, T.
    Schlegelberger, B.
    Junge, N.
    Goldschmidt, I.
    Leiskau, C.
    von Neuhoff, N.
    Baumann, U.
    Pfister, E-D.
    CLINICAL GENETICS, 2018, 93 (03) : 665 - 670
  • [22] Improving Diagnosis and Clinical Management of Acquired Systemic Autoinflammatory Diseases
    Al-Hakim, Adam
    Mistry, Anoop
    Savic, Sinisa
    JOURNAL OF INFLAMMATION RESEARCH, 2022, 15 : 5739 - 5755
  • [23] Molecular Diagnosis of Monogenic Diabetes and Clinical/Laboratory Features in Turkish Children
    Goksen, Damla
    Yesilkaya, Ediz
    Ozen, Samim
    Kor, Yilmaz
    Eren, Erdal
    Korkmaz, Ozlem
    Berberoglu, Merih
    Karaguzel, Gulay
    Er, Eren
    Abaci, Ayhan
    Evliyaoglu, Olcay
    Akbas, Emine Demet
    Unal, Edip
    Bolu, Semih
    Nalbantoglu, Ozlem
    Anik, Ahmet
    Tayfun, Meltem
    Buyukinan, Muammer
    Abali, Saygin
    Yilmaz, Gulay Can
    Kor, Deniz
    Sobu, Elif
    Siklar, Zeynep
    Polat, Recep
    Darcan, Sukran
    JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY, 2021, 13 (04) : 433 - 438
  • [24] ISSAID/EMQN Best Practice Guidelines for the Genetic Diagnosis of Monogenic Autoinflammatory Diseases in the Next-Generation Sequencing Era
    Shinar, Yael
    Ceccherini, Isabella
    Rowczenio, Dorota
    Aksentijevich, Ivona
    Arostegui, Juan
    Ben-Chetrit, Eldad
    Boursier, Guilaine
    Gattorno, Marco
    Hayrapetyan, Hasmik
    Ida, Hiroaki
    Kanazawa, Nobuo
    Lachmann, Helen J.
    Mensa-Vilaro, Anna
    Nishikomori, Ryuta
    Oberkanins, Christian
    Obici, Laura
    Ohara, Osamu
    Ozen, Seza
    Sarkisian, Tamara
    Sheils, Katie
    Wolstenholme, Nicola
    Zonneveld-Huijssoon, Evelien
    van Gijn, Marielle E.
    Touitou, Isabelle
    CLINICAL CHEMISTRY, 2020, 66 (04) : 525 - 536
  • [25] Drug survival of anakinra and canakinumab in monogenic autoinflammatory diseases: observational study from the International AIDA Registry
    Sota, Jurgen
    Rigante, Donato
    Cimaz, Rolando
    Cattalini, Marco
    Frassi, Micol
    Manna, Raffaele
    Sicignano, Ludovico Luca
    Verrecchia, Elena
    Aragona, Emma
    Maggio, Maria Cristina
    Lopalco, Giuseppe
    Emmi, Giacomo
    Parronchi, Paola
    Cauli, Alberto
    Wiesik-Szewczyk, Ewa
    Hernandez-Rodriguez, Jose
    Gaggiano, Carla
    Tarsia, Maria
    Mourabi, Mariam
    Ragab, Gaafar
    Vitale, Antonio
    Fabiani, Claudia
    Frediani, Bruno
    Lamacchia, Vittoria
    Renieri, Alessandra
    Cantarini, Luca
    RHEUMATOLOGY, 2021, 60 (12) : 5705 - 5712
  • [26] Pericarditis and Autoinflammation: A Clinical and Genetic Analysis of Patients With Idiopathic Recurrent Pericarditis and Monogenic Autoinflammatory Diseases at a National Referral Center
    Peet, Claire J.
    Rowczenio, Dorota
    Omoyinmi, Ebun
    Papadopoulou, Charalampia
    Mapalo, Bella Ruth R.
    Wood, Michael R.
    Capon, Francesca
    Lachmann, Helen J.
    JOURNAL OF THE AMERICAN HEART ASSOCIATION, 2022, 11 (11):
  • [27] Pathophysiology, clinical manifestations and current management of IL-1 mediated monogenic systemic autoinflammatory diseases, a literature review
    Yandie Li
    Meiping Yu
    Meiping Lu
    Pediatric Rheumatology, 20
  • [28] Pathophysiology, clinical manifestations and current management of IL-1 mediated monogenic systemic autoinflammatory diseases, a literature review
    Li, Yandie
    Yu, Meiping
    Lu, Meiping
    PEDIATRIC RHEUMATOLOGY, 2022, 20 (01)
  • [29] CLINICAL AND LABORATORY DIAGNOSIS OF CHRONIC GRANULOMATOUS DISEASE OF CHILDHOOD
    MACPHERSON, BR
    NAKAMURA, RM
    CRC CRITICAL REVIEWS IN DIAGNOSTIC IMAGING, 1977, 8 (01) : 81 - 103
  • [30] CLINICAL AND LABORATORY DIAGNOSIS OF CHRONIC GRANULOMATOUS DISEASE OF CHILDHOOD
    MACPHERSON, BR
    NAKAMURA, RM
    CRC CRITICAL REVIEWS IN CLINICAL LABORATORY SCIENCES, 1977, 8 (01): : 81 - 103
12345