Dialysis as a Treatment Option for a Patient With Normal Kidney Function and Familial Tumoral Calcinosis Due to a Compound Heterozygous FGF23 Mutation

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art_GOLDENSTEIN_Dialysis_as_a_Treatment_Option_for_a_Patient_2018.PDF (1.16 MB)
Citações na Scopus
3
Tipo de produção
article
Data de publicação
2018
DOI
Scopus
Web of Science
PubMed
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Título do Volume
Editora
W B SAUNDERS CO-ELSEVIER INC
Autores
JUPPNER, Harald
Citação
AMERICAN JOURNAL OF KIDNEY DISEASES, v.72, n.3, p.457-461, 2018
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Unidades Organizacionais
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Resumo
Primary tumoral calcinosis is a rare autosomal recessive disorder characterized by ectopic calcified tumoral masses. Mutations in 3 genes (GALNT3, FGF23, and KL) have been linked to this human disorder. We describe a case of a 28-year-old man with a history of painful firm masses over his right and left gluteal region, right clavicle region, knees, and left elbow. Biochemical analysis disclosed hyperphosphatemia (phosphate, 9.0 mg/dL) and normocalcemia (calcium, 4.8 mg/dL), with normal kidney function and fractional excretion of phosphate of 3%. Parathyroid hormone was suppressed (15 pg/mL), associated with a low-normal 25-hydroxyvitamin D (26 ng/mL) concentration but high 1,25-dihydroxyvitamin D concentration (92 pg/mL). Serum intact FGF-23 (fibroblast growth factor 23) was undetectable. Genetic analysis revealed tumoral calcinosis due to a compound heterozygous mutation in FGF23, c. 201G>C (p. Gln67His) and c. 466C>T (p. Gln156*). Due to lack of other treatment options and because the patient was facing severe vascular complications, we initiated a daily hemodialysis program even in the setting of normal kidney function. This unusual therapeutic option successful controlled hyperphosphatemia and reduced metastatic tumoral lesions. This is a report of a new mutation in FGF23 in which dialysis was an effective treatment option for tumoral calcinosis with normal kidney function.
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https://observatorio.fm.usp.br/handle/OPI/27967
Referências
  1. Adzhubei IA, 2010, NAT METHODS, V7, P248, DOI 10.1038/nmeth0410-248
  2. Benet-Pages A, 2005, HUM MOL GENET, V14, P385, DOI 10.1093/hmg/ddi034
  3. Duret MH, 1899, B SOC ANAT PARIS, V74, P725
  4. Farrow EG, 2011, BEST PRACT RES CL RH, V25, P735, DOI 10.1016/j.berh.2011.10.020
  5. Folsom LJ, 2015, CURR OSTEOPOROS REP, V13, P78, DOI 10.1007/s11914-015-0254-3
  6. Giard A, 1898, CR SOC BIOL, V10, P1015
  7. GREGOSIEWICZ A, 1989, J BONE JOINT SURG AM, V71A, P1244, DOI 10.2106/00004623-198971080-00019
  8. Ichikawa S., 2007, Journal of Musculoskeletal & Neuronal Interactions, V7, P318
  9. Ichikawa S, 2010, AM J MED GENET A, V152A, P896, DOI 10.1002/ajmg.a.33337
  10. Inclan A, 1943, J AMER MED ASSOC, V121, P490, DOI 10.1001/jama.1943.02840070018005
  11. LAFFERTY FW, 1965, AM J MED, V38, P105, DOI 10.1016/0002-9343(65)90164-6
  12. Larsson T, 2005, J CLIN ENDOCR METAB, V90, P2424, DOI 10.1210/jc.2004-2238
  13. LUFKIN EG, 1980, J CLIN ENDOCR METAB, V50, P648, DOI 10.1210/jcem-50-4-648
  14. MARTINEZ S, 1990, RADIOLOGY, V174, P215, DOI 10.1148/radiology.174.1.2294551
  15. MCCLATCHIE S, 1969, BMJ-BRIT MED J, V1, P153
  16. Olsen KM, 2006, RADIOGRAPHICS, V26, P871, DOI 10.1148/rg.263055099
  17. Sprecher E, 2010, J INVEST DERMATOL, V130, P652, DOI 10.1038/jid.2009.337
  18. Topaz O, 2004, NAT GENET, V36, P579, DOI 10.1038/ng1358

Coleções
Artigos e Materiais de Revistas Científicas - FM/MCM
Artigos e Materiais de Revistas Científicas - HC/ICHC
Artigos e Materiais de Revistas Científicas - HC/InCor
Artigos e Materiais de Revistas Científicas - LIM/13
Artigos e Materiais de Revistas Científicas - LIM/16
Artigos e Materiais de Revistas Científicas - LIM/29
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