Argentine consensus on late-onset Pompe's disease

被引：0

作者：

Dubrovsky, Alberto ^{[1
]}

Fulgenzi, Ernesto ^{[2
]}

De Vito, Eduardo L. ^{[3
,4
]}

Barroso, Fabio ^{[5
]}

Berardo, Andres ^{[6
]}

Bettini, Mariela ^{[7
]}

Binaghi, Daniela ^{[8
]}

Calabrese, Esteban ^{[9
]}

Carles, Daniel ^{[10
]}

Chaves, Marcelo ^{[11
]}

Chloca, Fernando ^{[12
]}

Conti, Eugenia ^{[13
]}

Corderi, Jose ^{[14
]}

Di Gennaro, Federico ^{[15
]}

Ferradas, Nelida ^{[16
]}

Jauregui, Agustin ^{[17
]}

Lubieniecki, Fabiana ^{[18
]}

Mazia, Claudio ^{[19
]}

Medina, Marta ^{[20
]}

Pirra, Laura ^{[1
]}

Politei, Juan ^{[21
]}

Reisin, Ricardo ^{[22
]}

Rosa, Alberto L. ^{[23
]}

Rugiero, Marcelo ^{[7
]}

Salutto, Valeria ^{[19
]}

Schenone, Andrea ^{[21
]}

Sussini, Mario ^{[24
]}

Taratuto, Ana L. ^{[25
,26
]}

机构：

[1] Fdn Favaloro, Inst Neurociencias, Buenos Aires, DF, Argentina

[2] Hosp Gen Agudos Dr Ignacio Pirovano, Serv Neurol, Av Monroe 3555, RA-1428 Buenos Aires, DF, Argentina

[3] Univ Buenos Aires, Inst Invest Med Alfredo Lanari, Buenos Aires, DF, Argentina

[4] Ctr Parque, Cuidados Resp, Buenos Aires, DF, Argentina

[5] Inst Invest Neurol FLENI, Serv Enfermedades Neuromusculares, Buenos Aires, DF, Argentina

[6] Inst Conci Carpinella, Unidad Neurociencias, Cordoba, Argentina

[7] Hosp Italian Buenos Aires, Serv Enfermedades Neuromusculares, Buenos Aires, DF, Argentina

[8] Fdn Favaloro, Dept Imagenes, Buenos Aires, DF, Argentina

[9] INECO, Serv Enfermedades Neuromusculares, Rosario, Sante Fe, Argentina

[10] Hosp Perrando, Serv Neumonol, Resistencia, Chaco, Argentina

[11] Hosp San Martin, Serv Enfermedades Neuromusculares, Parana, Entre Rios, Argentina

[12] Hosp Malvinas Argentines, Serv Neurol, Buenos Aires, DF, Argentina

[13] Hosp Clin Jose San Martin, Serv Neurol, Area Enfermedades Neuromusculares, Buenos Aires, DF, Argentina

[14] Fdn Favaloro, Dept Kinesiol, Buenos Aires, DF, Argentina

[15] Hosp Aleman, Dept Med Interna, Buenos Aires, DF, Argentina

[16] ILSI, Buenos Aires, DF, Argentina

[17] Fdn Favaloro, Dept Neurol, Buenos Aires, DF, Argentina

[18] Hosp Pediat Prof Dr JP Garrahan, Serv Patol, Buenos Aires, DF, Argentina

[19] Univ Buenos Aires, Inst Invest Med Alfredo Lanari, Dept Neurol, Buenos Aires, DF, Argentina

[20] Hosp Cordoba, Serv Neurol, Cordoba, Argentina

[21] Fdn Estudio Enfermedades Neurometab FESEN, Lab Neuroquim Dr NA Chamoles, Buenos Aires, DF, Argentina

[22] Hosp Britan, Secc Enfermedades Neuromusculares, Buenos Aires, DF, Argentina

[23] Univ Catolica Cordoba, Fdn Allende, IRNASUS CONICET,Serv Genet Med, Lab Diagnost Genet & Biol Mol,Sanatorio Allende,L, Cordoba, Argentina

[24] Hosp Escuela Corrientes, Serv Neumonol, Corrientes, Argentina

[25] Inst Invest Neurol FLENI, Dept Neuropatol, Buenos Aires, DF, Argentina

[26] Hosp Nacl Pediat Prof Dr Juan P Garrahan, Buenos Aires, DF, Argentina

来源：

MEDICINA-BUENOS AIRES | 2018年 / 78卷

关键词：

alfa-glucosidase; consensus; acid lisosomal maltase deficiency; Pompe's disease; type II glycogenosis; enzyme replacement therapy; ENZYME REPLACEMENT THERAPY; ACID MALTASE DEFICIENCY; DUCHENNE MUSCULAR-DYSTROPHY; HUMAN ALPHA-GLUCOSIDASE; LYSOSOMAL STORAGE DISORDERS; BONE-MINERAL DENSITY; QUALITY-OF-LIFE; RESPIRATORY-FAILURE; PULMONARY-FUNCTION; NATURAL-HISTORY;

D O I：

暂无

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Pompe's disease (PD) is an infrequent metabolic autosomic recessive disorder produced by the lack or deficiency of the acid alpha-glucosidase lysosomal enzyme in tissues of involved individuals. Delayed-onset PD is considered whenever symptoms onset start after one year of age. We present an update of the recommendations for the management of delayed-onset PD, taking as reference the guidelines from the Argentine Consensus for diagnosis, treatment and follow-up of PD published in 2013. The present consensus gathered several experts in PD in the areas of internal medicine, laboratory diagnosis. neuropathology, pulmonology, nutrition, neurology. metabolic and neuromuscular disorders as well as rehabilitation to perform an update of the literature of delayed-onset PD, with special attention on relevant information published within the last 4 years. The entire working group approved the final version of the consensus. Each participant provided a declaration of conflict of interest. As a result, it is an update of the previous Argentine PD Consensus with focus on the delayed-onset presentation of the disease. Being such infrequent disorder. available data were rather limited and thus. the recommendations represent expert opinions.

引用

页码：1 / 23

页数：23

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