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Renal interstitial globotriaosylceramide inclusions

MedGen UID:
1773529
•Concept ID:
C5421581
•
Finding
HPO: HP:0033064

Definition

Accumulation of globotriaosylceramide (GL-3) in kidney tissues, which can be quantified as the number of globotriaosylceramide (GL-3) inclusions/kidney interstitial capillary (KIC). [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVRenal interstitial globotriaosylceramide inclusions

Recent clinical studies

Etiology

Migalastat: A Review in Fabry Disease.
McCafferty EH, Scott LJ
Drugs 2019 Apr;79(5):543-554. doi: 10.1007/s40265-019-01090-4. PMID: 30875019Free PMC Article
Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat.
Germain DP, Hughes DA, Nicholls K, Bichet DG, Giugliani R, Wilcox WR, Feliciani C, Shankar SP, Ezgu F, Amartino H, Bratkovic D, Feldt-Rasmussen U, Nedd K, Sharaf El Din U, Lourenco CM, Banikazemi M, Charrow J, Dasouki M, Finegold D, Giraldo P, Goker-Alpan O, Longo N, Scott CR, Torra R, Tuffaha A, Jovanovic A, Waldek S, Packman S, Ludington E, Viereck C, Kirk J, Yu J, Benjamin ER, Johnson F, Lockhart DJ, Skuban N, Castelli J, Barth J, Barlow C, Schiffmann R
N Engl J Med 2016 Aug 11;375(6):545-55. doi: 10.1056/NEJMoa1510198. PMID: 27509102

Diagnosis

Enzyme replacement therapy stabilizes obstructive pulmonary Fabry disease associated with respiratory globotriaosylceramide storage.
Wang RY, Abe JT, Cohen AH, Wilcox WR
J Inherit Metab Dis 2008 Dec;31 Suppl 2:S369-74. Epub 2008 Oct 21 doi: 10.1007/s10545-008-0930-x. PMID: 18937048

Therapy

Migalastat: A Review in Fabry Disease.
McCafferty EH, Scott LJ
Drugs 2019 Apr;79(5):543-554. doi: 10.1007/s40265-019-01090-4. PMID: 30875019Free PMC Article
Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat.
Germain DP, Hughes DA, Nicholls K, Bichet DG, Giugliani R, Wilcox WR, Feliciani C, Shankar SP, Ezgu F, Amartino H, Bratkovic D, Feldt-Rasmussen U, Nedd K, Sharaf El Din U, Lourenco CM, Banikazemi M, Charrow J, Dasouki M, Finegold D, Giraldo P, Goker-Alpan O, Longo N, Scott CR, Torra R, Tuffaha A, Jovanovic A, Waldek S, Packman S, Ludington E, Viereck C, Kirk J, Yu J, Benjamin ER, Johnson F, Lockhart DJ, Skuban N, Castelli J, Barth J, Barlow C, Schiffmann R
N Engl J Med 2016 Aug 11;375(6):545-55. doi: 10.1056/NEJMoa1510198. PMID: 27509102
Enzyme replacement therapy stabilizes obstructive pulmonary Fabry disease associated with respiratory globotriaosylceramide storage.
Wang RY, Abe JT, Cohen AH, Wilcox WR
J Inherit Metab Dis 2008 Dec;31 Suppl 2:S369-74. Epub 2008 Oct 21 doi: 10.1007/s10545-008-0930-x. PMID: 18937048

Clinical prediction guides

Kidney histologic alterations in α-Galactosidase-deficient mice.
Valbuena C, Oliveira JP, Carneiro F, Relvas S, Ganhão M, Sá-Miranda MC, Rodrigues LG
Virchows Arch 2011 Apr;458(4):477-86. Epub 2011 Feb 16 doi: 10.1007/s00428-011-1051-8. PMID: 21328014

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