Improvement of bone microarchitecture parameters after 12 months of treatment with asfotase alfa in adult patient with hypophosphatasia Case report

Imagem de Miniatura
Arquivos
art_FREITAS_Improvement_of_bone_microarchitecture_parameters_after_12_months_2018.PDF (430.81 KB)
Citações na Scopus
17
Tipo de produção
article
Data de publicação
2018
DOI
Scopus
Web of Science
PubMed
Título da Revista
ISSN da Revista
Título do Volume
Editora
LIPPINCOTT WILLIAMS & WILKINS
Autores
Citação
MEDICINE, v.97, n.48, article ID e13210, 6p, 2018
Projetos de Pesquisa
Unidades Organizacionais
Fascículo
Resumo
Rationale: Hypophosphatasia is an inborn error of metabolism that can appear any time in life, mainly with bone manifestations due to low alkaline phosphatase activity. Asfotase alfa is a specific enzyme reposition treatment that has shown promising results in children; however, there are few reports about the outcomes in adult patients. Patient concerns: A 36-year-old male presented with an early history of craniosynostosis, short stature, and multiple fractures since the age of 13 years-which needed numerous surgical corrections. He was admitted with a previous diagnosis of osteogenesis imperfecta, taking alendronate, calcium carbonate, cholecalciferol, and calcitriol. Bone mineral density was low (lumbar spine Z-score = -3.0 SD), with impairment of all parameters of high-resolution peripheral quantitative computed tomography (HR-pQCT). Kidney impairment was also observed with reduced creatinine clearance, nephrolithiasis, and nephrocalcinosis. Diagnosis: Alkaline phosphatase was unexpectedly low (6 U/L, reference value: 30-120U/L), with high serum vitamin B6 (260 mcg/L, reference value: 5.2-34.1). Genetic testing showed a homozygous missense mutation in ALPL gene c.443 C>T: p.Thr148Ile. Intervention: Asfotase alfa was requested due to important bone deterioration, ambulatory disability, and kidney impairment. It was given subcutaneously 2 mg/kg per dose, 3 times a week, for 12 months before reassessment. Outcomes: Bone mineral densities of the lumbar spine and whole body, besides almost all HR-pQCT microstructural parameters of the distal tibia, showed improvements and the patient was able to walk without assistant device. Kidney function did not further deteriorate. Lessons: Hypophosphatasia should be considered as a differential diagnosis in young patients with multiple fractures and kidney impairment, since the use of antiresorptive drugs, calcium and vitamin D, commonly used to treat fractures, worsen its symptoms and prognosis. A 12-month asfotase alfa treatment improved bone density and structural parameters even in an adult patient with late diagnosis.
Palavras-chave
alkaline phosphatase, bone, bone remodeling, fractures, hypophosphatasia, nephrolithiasis
URI
https://observatorio.fm.usp.br/handle/OPI/29811
Referências
  1. Allen M, 2018, CURR OSTEOPOROS REP, V16, P198, DOI 10.1007/s11914-018-0430-3
  2. Buchet R, 2013, METHODS MOL BIOL, V1053, P27, DOI 10.1007/978-1-62703-562-0_3
  3. Cranney Ann, 2007, Evid Rep Technol Assess (Full Rep), P1
  4. FRASER D, 1957, AM J MED, V22, P730, DOI 10.1016/0002-9343(57)90124-9
  5. Glendenning P, 2018, CLIN CHIM ACTA, V481, P161, DOI 10.1016/j.cca.2018.03.009
  6. Kitaoka T, 2017, CLIN ENDOCRINOL, V87, P10, DOI 10.1111/cen.13343
  7. Levey AS, 2006, ANN INTERN MED, V145, P247, DOI 10.7326/0003-4819-145-4-200608150-00004
  8. Lima GL, 2018, OSTEOPOROSIS INT, V29, P587, DOI 10.1007/s00198-017-4316-5
  9. Linglart A, 2016, CURR OSTEOPOROS REP, V14, P95, DOI 10.1007/s11914-016-0309-0
  10. Marini F, 2017, CLIN CASES MINER BON, V14, P324, DOI 10.11138/ccmbm/2017.14.3.324
  11. Millan JL, 2008, J BONE MINER RES, V23, P777, DOI 10.1359/JBMR.071213
  12. Millan JL, 2016, CALCIFIED TISSUE INT, V98, P398, DOI 10.1007/s00223-015-0079-1
  13. Mornet E., TISSUE NONSPECIFIC A
  14. Mornet E, 2015, SUBCELL BIOCHEM, V76, P25, DOI 10.1007/978-94-017-7197-9_2
  15. Orimo H, 2016, THER CLIN RISK MANAG, V12, P777, DOI 10.2147/TCRM.S87956
  16. Pharmaceuticals A, 2015, US PRESCR INF
  17. Remde H, 2017, J ENDOCR SOC, V1, P1188, DOI 10.1210/js.2017-00307
  18. Rockman-Greenberg Cheryl, 2013, Pediatr Endocrinol Rev, V10 Suppl 2, P380
  19. Scott LJ, 2016, BIODRUGS, V30, P41, DOI 10.1007/s40259-016-0161-x
  20. Scott LJ, 2016, DRUGS, V76, P255, DOI 10.1007/s40265-015-0535-2
  21. Shapiro JR, 2017, J BONE MINER RES, V32, P1977, DOI 10.1002/jbmr.3226
  22. Spentchian M, 2003, Hum Mutat, V22, P105, DOI 10.1002/humu.9159
  23. Sutton RAL, 2012, J BONE MINER RES, V27, P987, DOI 10.1002/jbmr.1565
  24. Vaisman DN, 2005, BIOL TRACE ELEM RES, V104, P131, DOI 10.1385/BTER:104:2:131
  25. Whyte MP, 2017, BONE, V102, P15, DOI 10.1016/j.bone.2017.02.011
  26. Whyte MP, 2017, J BONE MINER RES, V32, P667, DOI 10.1002/jbmr.3075
  27. Whyte MP, 2016, NAT REV ENDOCRINOL, V12, P233, DOI 10.1038/nrendo.2016.14

Coleções
Artigos e Materiais de Revistas Científicas - FM/MCM
Artigos e Materiais de Revistas Científicas - HC/ICHC
Artigos e Materiais de Revistas Científicas - LIM/13
Artigos e Materiais de Revistas Científicas - LIM/17