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Adult Fanconi syndrome(RFS; FRTS)

MedGen UID:
137960
Concept ID:
C0341703
Disease or Syndrome
Synonyms: Adult Fanconi Syndrome; Fanconi Renotubular Syndrome; Fanconi Syndrome without Cystinosis; Fanconi Syndrome, Adult; Fanconi Syndrome, Renal; Luder Sheldon Syndrome; Luder-Sheldon Syndrome; Renal Fanconi Syndrome; Renotubular Syndrome, Fanconi; Syndrome, Adult Fanconi; Syndrome, Fanconi Renotubular; Syndrome, Luder-Sheldon; Syndrome, Renal Fanconi
SNOMED CT: Adult Fanconi syndrome (236468006)
 
Monarch Initiative: MONDO:0060778
OMIM®: 134600

Definition

Probably related to a recessive gene, this is Fanconi Syndrome, characterized by adult onset. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAdult Fanconi syndrome

Professional guidelines

PubMed

Wlodarski MW, Vlachos A, Farrar JE, Da Costa LM, Kattamis A, Dianzani I, Belendez C, Unal S, Tamary H, Pasauliene R, Pospisilova D, de la Fuente J, Iskander D, Wolfe L, Liu JM, Shimamura A, Albrecht K, Lausen B, Bechensteen AG, Tedgard U, Puzik A, Quarello P, Ramenghi U, Bartels M, Hengartner H, Farah RA, Al Saleh M, Hamidieh AA, Yang W, Ito E, Kook H, Ovsyannikova G, Kager L, Gleizes PE, Dalle JH, Strahm B, Niemeyer CM, Lipton JM, Leblanc TM; international Diamond-Blackfan anaemia syndrome guideline panel
Lancet Haematol 2024 May;11(5):e368-e382. doi: 10.1016/S2352-3026(24)00063-2. PMID: 38697731
Haffner D, Leifheit-Nestler M, Grund A, Schnabel D
Pediatr Nephrol 2022 Oct;37(10):2289-2302. Epub 2022 Mar 29 doi: 10.1007/s00467-022-05505-5. PMID: 35352187Free PMC Article
Fiesco-Roa MO, Giri N, McReynolds LJ, Best AF, Alter BP
Blood Rev 2019 Sep;37:100589. Epub 2019 Jul 16 doi: 10.1016/j.blre.2019.100589. PMID: 31351673Free PMC Article

Recent clinical studies

Etiology

Messiaen T, Deret S, Mougenot B, Bridoux F, Dequiedt P, Dion JJ, Makdassi R, Meeus F, Pourrat J, Touchard G, Vanhille P, Zaoui P, Aucouturier P, Ronco PM
Medicine (Baltimore) 2000 May;79(3):135-54. doi: 10.1097/00005792-200005000-00002. PMID: 10844934
Isobe T, Kametani F, Shinoda T
Amyloid 1998 Jun;5(2):117-20. doi: 10.3109/13506129808995289. PMID: 9686306
Dahlström U, Mårtensson J, Lindström FD
Acta Med Scand 1980;208(6):425-9. doi: 10.1111/j.0954-6820.1980.tb01226.x. PMID: 7468311
Perry MC, Kyle RA
Mayo Clin Proc 1975 May;50(5):234-8. PMID: 1127990

Diagnosis

Ribourtout B, Zandecki M
Morphologie 2015 Jun;99(325):38-62. Epub 2015 Apr 18 doi: 10.1016/j.morpho.2015.02.001. PMID: 25899140
Rao DS, Parfitt AM, Villanueva AR, Dorman PJ, Kleerekoper M
Am J Med 1987 Feb;82(2):333-8. doi: 10.1016/0002-9343(87)90081-7. PMID: 3101497
Kertész F
Acta Med Acad Sci Hung 1967;24(3):185-94. PMID: 5604980
DENT CE, STOWES JM
Br Med J 1965 Feb 20;1(5433):520. doi: 10.1136/bmj.1.5433.520. PMID: 14238685Free PMC Article
GOUTTAS A, MICHAELIDES GJ, PAPANICOLAOU N, PRATSIKA K, YATZIDIS H
N Y State J Med 1965 Jan 15;65:295-7. PMID: 14227575

Therapy

Maybach A, Baro S, Kachurka K, Davis MP
BMJ Support Palliat Care 2024 Jan 8;13(e3):e942-e944. doi: 10.1136/spcare-2022-003750. PMID: 35764376
Reusch HP, Mann JF, Mihatch MJ, Siffert W, Luft FC
Nephrol Dial Transplant 1995;10(1):39-46. PMID: 7724027
Uchida S, Matsuda O, Yokota T, Takemura T, Ando R, Kanemitsu H, Hamaguchi H, Miyake S, Marumo F
Nephron 1990;55(3):332-5. doi: 10.1159/000185986. PMID: 2115147
von Schéele C
Acta Med Scand 1976;199(6):533-7. doi: 10.1111/j.0954-6820.1976.tb06777.x. PMID: 820162
Mullan DP
Postgrad Med J 1966 Jan;42(483):55-9. doi: 10.1136/pgmj.42.483.55. PMID: 5902903Free PMC Article

Prognosis

Ribourtout B, Zandecki M
Morphologie 2015 Jun;99(325):38-62. Epub 2015 Apr 18 doi: 10.1016/j.morpho.2015.02.001. PMID: 25899140
Jones D, Bhatia VK, Krausz T, Pinkus GS
Hum Pathol 1999 Dec;30(12):1441-8. doi: 10.1016/s0046-8177(99)90166-1. PMID: 10667422
von Schéele C
Acta Med Scand 1976;199(6):533-7. doi: 10.1111/j.0954-6820.1976.tb06777.x. PMID: 820162

Clinical prediction guides

Ribourtout B, Zandecki M
Morphologie 2015 Jun;99(325):38-62. Epub 2015 Apr 18 doi: 10.1016/j.morpho.2015.02.001. PMID: 25899140
Messiaen T, Deret S, Mougenot B, Bridoux F, Dequiedt P, Dion JJ, Makdassi R, Meeus F, Pourrat J, Touchard G, Vanhille P, Zaoui P, Aucouturier P, Ronco PM
Medicine (Baltimore) 2000 May;79(3):135-54. doi: 10.1097/00005792-200005000-00002. PMID: 10844934
Reusch HP, Mann JF, Mihatch MJ, Siffert W, Luft FC
Nephrol Dial Transplant 1995;10(1):39-46. PMID: 7724027
Uchida S, Matsuda O, Yokota T, Takemura T, Ando R, Kanemitsu H, Hamaguchi H, Miyake S, Marumo F
Nephron 1990;55(3):332-5. doi: 10.1159/000185986. PMID: 2115147
Lee DB, Drinkard JP, Rosen VJ, Gonick HC
Medicine (Baltimore) 1972 Mar;51(2):107-38. PMID: 5013635

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