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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

Diagnosis, treatment, and surveillance of Diamond-Blackfan anaemia syndrome: international consensus statement.
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
Rickets guidance: part II-management.
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
Genotype-phenotype associations in Fanconi anemia: A literature review.
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

Adult Fanconi syndrome secondary to light chain gammopathy. Clinicopathologic heterogeneity and unusual features in 11 patients.
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
V-domain deposition of lambda Bence Jones protein in the renal tubular epithelial cells in a patient with the adult Fanconi syndrome with myeloma.
Isobe T, Kametani F, Shinoda T
Amyloid 1998 Jun;5(2):117-20. doi: 10.3109/13506129808995289. PMID: 9686306
Occurrence of adult Fanconi syndrome in benign monoclonal gammopathy.
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
The clinical significance of Bence Jones proteinuria.
Perry MC, Kyle RA
Mayo Clin Proc 1975 May;50(5):234-8. PMID: 1127990

Diagnosis

Plasma cell morphology in multiple myeloma and related disorders.
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
Adult Fanconi syndrome and liver cirrhosis.
Nardone G, Nunziata V, Salvatore G, Cimino L, Budillon G
Ital J Gastroenterol 1990 Oct;22(5):301-2. PMID: 2134330
Hypophosphatemic osteomalacia and adult Fanconi syndrome due to light-chain nephropathy. Another form of oncogenous osteomalacia.
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
ADULT FANCONI SYNDROME AND CIRRHOSIS.
DENT CE, STOWES JM
Br Med J 1965 Feb 20;1(5433):520. doi: 10.1136/bmj.1.5433.520. PMID: 14238685Free PMC Article
ADULT FANCONI SYNDROME.
GOUTTAS A, MICHAELIDES GJ, PAPANICOLAOU N, PRATSIKA K, YATZIDIS H
N Y State J Med 1965 Jan 15;65:295-7. PMID: 14227575

Therapy

Valproic acid as an adjuvant analgesic: adult Fanconi syndrome.
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
Light-chain-induced renal tubular acidosis: effect of sodium bicarbonate on sodium-proton exchange.
Reusch HP, Mann JF, Mihatch MJ, Siffert W, Luft FC
Nephrol Dial Transplant 1995;10(1):39-46. PMID: 7724027
Adult Fanconi syndrome secondary to kappa-light chain myeloma: improvement of tubular functions after treatment for myeloma.
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
Light chain myeloma with features of the adult Fanconi syndrome: six years remission following one course of melphalan.
von Schéele C
Acta Med Scand 1976;199(6):533-7. doi: 10.1111/j.0954-6820.1976.tb06777.x. PMID: 820162
The adult Fanconi syndrome.
Mullan DP
Postgrad Med J 1966 Jan;42(483):55-9. doi: 10.1136/pgmj.42.483.55. PMID: 5902903Free PMC Article

Prognosis

Plasma cell morphology in multiple myeloma and related disorders.
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
Crystal-storing histiocytosis: a disorder occurring in plasmacytic tumors expressing immunoglobulin kappa light chain.
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
Light chain myeloma with features of the adult Fanconi syndrome: six years remission following one course of melphalan.
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

Plasma cell morphology in multiple myeloma and related disorders.
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
Adult Fanconi syndrome secondary to light chain gammopathy. Clinicopathologic heterogeneity and unusual features in 11 patients.
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
Light-chain-induced renal tubular acidosis: effect of sodium bicarbonate on sodium-proton exchange.
Reusch HP, Mann JF, Mihatch MJ, Siffert W, Luft FC
Nephrol Dial Transplant 1995;10(1):39-46. PMID: 7724027
Adult Fanconi syndrome secondary to kappa-light chain myeloma: improvement of tubular functions after treatment for myeloma.
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
The adult Fanconi syndrome: observations on etiology, morphology, renal function and mineral metabolism in three patients.
Lee DB, Drinkard JP, Rosen VJ, Gonick HC
Medicine (Baltimore) 1972 Mar;51(2):107-38. PMID: 5013635

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