title: A retrospective study of paroxysmal nocturnal hemoglobinuria in pediatric and adolescent patients.
abstract: Paroxysmal nocturnal hemoglobinuria (PNH) is a rare disease, especially in children, characterized by intravascular hemolysis, thrombotic events, serious infections and bone marrow failure. We describe 16 patients who were diagnosed with PNH in childhood or adolescence. The time interval between the onset of symptoms and the PNH diagnosis and its treatment were compared in patients with classic PNH versus PNH associated with bone marrow disorder (PNH/BMD). A greater delay in diagnosis was observed in classic PNH compared to PNH/BMD patients. The first group of patients had higher levels of LDH, total bilirubin and absolute reticulocyte count and a bigger PNH clone size compared to PNH/BMD patients; also thrombotic events were observed only in the classic form of PNH. Conversely, PNH/BMD patients showed lower median levels of platelets. Apart from standard supportive measures, four patients with classic PNH received eculizumab whereas four patients with PNH/BMD underwent hematopoietic stem cell transplantation. Our series confirm that the most frequent presentation of PNH in the pediatric-adolescent age is PNH/BMD. The delay between the onset of symptoms and PNH diagnosis is relevant principally in the classic form. Moreover, our study showed that any case of unexpected thrombosis represents a criterium to perform a PNH screening.
authors.affiliation: U.O.C Oncoematologia Pediatrica-AOUI Verona, P.le L.A. Scuro 10, 37134 Verona, Italy. Electronic address: mercuri.angela83@gmail.com.
authors.forename: Angela
authors.initials: A
authors.lastname: Mercuri
authors.affiliation: Pediatric Hematology and Oncology Unit, Oncology Department, A.R.N.A.S. Ospedali Civico, Di Cristina e Benfratelli, Piazza Nicola Leotta 4, 90127 Palermo, Italy.
authors.forename: Piero
authors.initials: P
authors.lastname: Farruggia
authors.affiliation: S.C. Oncoematologia Pediatrica e Centro Trapianti-Presidio Infantile Regina Margherita-A.O.U. Città della Salute e della Scienza, Piazza Polonia 94, 10126 Torino, Italy.
authors.forename: Fabio
authors.initials: F
authors.lastname: Timeus
authors.affiliation: UOC Ematologia-Dipart. di Biotecnologie Cellulari ed Ematologia-Policlinico Umberto I Università " Sapienza"di Roma, via Benevento 6, 00161 Roma, Italy.
authors.forename: Laura
authors.initials: L
authors.lastname: Lombardi
authors.affiliation: UOS di Oncoematologia Pediatrica, Dipartimento di Ematologia, Medicina Trasfusionale e Biotecnologie-Ospedale Spirito Santo, via Fonte Romana 8, 65123 Pescara, Italy.
authors.forename: Daniela
authors.initials: D
authors.lastname: Onofrillo
authors.affiliation: Oncoematologia Pediatrica- Azienda Ospedaliera di Padova, Via N. Giustiniani 3, 35128 Padova, Italy. Electronic address: mariacaterina.putti@unipd.it.
authors.forename: Maria Caterina
authors.initials: MC
authors.lastname: Putti
authors.affiliation: Oncoematologia Pediatrica- Azienda Ospedaliera di Padova, Via N. Giustiniani 3, 35128 Padova, Italy.
authors.forename: Marta
authors.initials: M
authors.lastname: Pillon
authors.affiliation: Oncologia ed Ematologia Pediatrica, U.O. Pediatria- Pession, Dipartimento per la salute della donna, del bambino e delle malattie urologiche, Azienda Ospedaliero-Universitaria Sant'Orsola-Malpighi, via Massarenti 11, 40138 Bologna, Italy.
authors.forename: Maria Elena
authors.initials: ME
authors.lastname: Cantarini
authors.affiliation: Clinica Pediatrica-Università Milano Bicocca, Fondazione Monza e Brianza Bambino Mamma, via Pergolesi 33, 20900 Monza, Italy.
authors.forename: Paola
authors.initials: P
authors.lastname: Corti
authors.affiliation: U.O.C Oncoematologia Pediatrica-AOUI Verona, P.le L.A. Scuro 10, 37134 Verona, Italy.
authors.forename: Gloria
authors.initials: G
authors.lastname: Tridello
authors.affiliation: U.O.C Oncoematologia Pediatrica-AOUI Verona, P.le L.A. Scuro 10, 37134 Verona, Italy.
authors.forename: Massimiliano
authors.initials: M
authors.lastname: De Bortoli
authors.affiliation: U.O.C Oncoematologia Pediatrica-AOUI Verona, P.le L.A. Scuro 10, 37134 Verona, Italy.
authors.forename: Anna
authors.initials: A
authors.lastname: Pegoraro
authors.affiliation: U.O.C Oncoematologia Pediatrica-AOUI Verona, P.le L.A. Scuro 10, 37134 Verona, Italy.
authors.forename: Simone
authors.initials: S
authors.lastname: Cesaro
mesh_terms: D000293:Adolescent; D000328:Adult; D064591:Allografts; D061067:Antibodies, Monoclonal, Humanized / Q000008:administration & dosage*; D001663:Bilirubin / Q000097:blood; D001792:Blood Platelets / Q000378:metabolism; D001855:Bone Marrow Diseases / Q000097:blood / Q000150:complications / Q000175:diagnosis / Q000628:therapy; D002648:Child; D005260:Female; D018380:Hematopoietic Stem Cell Transplantation; D006457:Hemoglobinuria, Paroxysmal / Q000097:blood / Q000150:complications / Q000175:diagnosis / Q000628:therapy; D006801:Humans; D008297:Male; D017701:Reticulocyte Count; D012189:Retrospective Studies
chemical_list: D061067:Antibodies, Monoclonal, Humanized; C481642:eculizumab; D001663:Bilirubin
keywords: Intravascular hemolysis; Paroxysmal nocturnal hemoglobinuria; Pediatric, adolescent