U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Fanconi syndrome

MedGen UID:
4653
Concept ID:
C0015624
Disease or Syndrome
Synonyms: Fanconi renotubular syndrome; Fanconi syndrome without cystinosis; Idiopathic De Toni-Debre-Fanconi syndrome; Toni-Fanconi syndrome
SNOMED CT: Fanconi syndrome (40488004)
 
Monarch Initiative: MONDO:0001083

Definition

Fanconi renotubular syndrome is an autosomal dominant renal disorder resulting from decreased solute and water reabsorption in the proximal tubule of the kidney. Patients have polydipsia and polyuria with phosphaturia, glycosuria, and aminoaciduria. They may develop hypophosphatemic rickets or osteomalacia, renal acidosis, and a tendency toward dehydration. Common laboratory abnormalities include glucosuria with a normal serum glucose, hyperaminoaciduria, hypophosphatemia, progressive renal insufficiency, renal sodium and potassium wasting, acidosis, uricosuria, and low molecular weight proteinuria. The disorder is progressive, and some patients will eventually develop renal insufficiency (summary by Lichter-Konecki et al., 2001). Genetic Heterogeneity of Fanconi Renotubular Syndrome See also FRTS2 (613388), caused by mutation in the SLC34A1 gene (182309) on chromosome 5q35; FRTS3 (615605), caused by mutation in the EHHADH gene (607037) on chromosome 3q27; FRTS4 (616026), which is associated with maturity-onset diabetes of the young (MODY), caused by mutation in the HNF4A gene (600281) on chromosome 20q13; and FRTS5 (618913), caused by mutation in the NDUFAF6 gene (612392) on chromosome 8q22. [from OMIM]

Professional guidelines

PubMed

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
Jamalpoor A, Othman A, Levtchenko EN, Masereeuw R, Janssen MJ
Trends Mol Med 2021 Jul;27(7):673-686. Epub 2021 May 8 doi: 10.1016/j.molmed.2021.04.004. PMID: 33975805
Ivanova E, De Leo MG, De Matteis MA, Levtchenko E
Pediatr Endocrinol Rev 2014 Sep;12 Suppl 1:176-84. PMID: 25345100

Recent clinical studies

Etiology

Bagga A, Sinha A
Indian J Pediatr 2020 Sep;87(9):733-744. Epub 2020 Jun 26 doi: 10.1007/s12098-020-03318-8. PMID: 32591997
Hogan JJ, Alexander MP, Leung N
Am J Kidney Dis 2019 Dec;74(6):822-836. Epub 2019 Jul 19 doi: 10.1053/j.ajkd.2019.04.029. PMID: 31331759
Alexander RT, Bitzan M
Pediatr Clin North Am 2019 Feb;66(1):135-157. doi: 10.1016/j.pcl.2018.08.011. PMID: 30454739
Yang B, Xie Y, Guo M, Rosner MH, Yang H, Ronco C
Clin J Am Soc Nephrol 2018 Oct 8;13(10):1605-1611. Epub 2018 Apr 3 doi: 10.2215/CJN.11571017. PMID: 29615394Free PMC Article
François H, Mariette X
Nat Rev Nephrol 2016 Feb;12(2):82-93. Epub 2015 Nov 16 doi: 10.1038/nrneph.2015.174. PMID: 26568188

Diagnosis

Albuquerque ALB, Dos Santos Borges R, Conegundes AF, Dos Santos EE, Fu FMM, Araujo CT, Vaz de Castro PAS, Simões E Silva AC
World J Pediatr 2023 Jul;19(7):619-634. Epub 2023 Feb 2 doi: 10.1007/s12519-023-00685-y. PMID: 36729281
Bagga A, Sinha A
Indian J Pediatr 2020 Sep;87(9):733-744. Epub 2020 Jun 26 doi: 10.1007/s12098-020-03318-8. PMID: 32591997
Hogan JJ, Alexander MP, Leung N
Am J Kidney Dis 2019 Dec;74(6):822-836. Epub 2019 Jul 19 doi: 10.1053/j.ajkd.2019.04.029. PMID: 31331759
Foreman JW
Pediatr Clin North Am 2019 Feb;66(1):159-167. doi: 10.1016/j.pcl.2018.09.002. PMID: 30454741
Alexander RT, Bitzan M
Pediatr Clin North Am 2019 Feb;66(1):135-157. doi: 10.1016/j.pcl.2018.08.011. PMID: 30454739

Therapy

Sturla Álvarez DA, Sánchez Marcos E, de Lucas Collantes C, Cantarín Extremera V, Soto Insuga V, Aparicio López C
Pediatr Neurol 2022 May;130:53-59. Epub 2022 Mar 12 doi: 10.1016/j.pediatrneurol.2022.03.001. PMID: 35364461
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
Hogan JJ, Alexander MP, Leung N
Am J Kidney Dis 2019 Dec;74(6):822-836. Epub 2019 Jul 19 doi: 10.1053/j.ajkd.2019.04.029. PMID: 31331759
Yang B, Xie Y, Guo M, Rosner MH, Yang H, Ronco C
Clin J Am Soc Nephrol 2018 Oct 8;13(10):1605-1611. Epub 2018 Apr 3 doi: 10.2215/CJN.11571017. PMID: 29615394Free PMC Article
Izzedine H, Launay-Vacher V, Isnard-Bagnis C, Deray G
Am J Kidney Dis 2003 Feb;41(2):292-309. doi: 10.1053/ajkd.2003.50037. PMID: 12552490

Prognosis

Albuquerque ALB, Dos Santos Borges R, Conegundes AF, Dos Santos EE, Fu FMM, Araujo CT, Vaz de Castro PAS, Simões E Silva AC
World J Pediatr 2023 Jul;19(7):619-634. Epub 2023 Feb 2 doi: 10.1007/s12519-023-00685-y. PMID: 36729281
Alexander RT, Bitzan M
Pediatr Clin North Am 2019 Feb;66(1):135-157. doi: 10.1016/j.pcl.2018.08.011. PMID: 30454739
François H, Mariette X
Nat Rev Nephrol 2016 Feb;12(2):82-93. Epub 2015 Nov 16 doi: 10.1038/nrneph.2015.174. PMID: 26568188
Hall AM, Bass P, Unwin RJ
QJM 2014 Apr;107(4):261-9. Epub 2013 Dec 24 doi: 10.1093/qjmed/hct258. PMID: 24368854
Devuyst O, Thakker RV
Orphanet J Rare Dis 2010 Oct 14;5:28. doi: 10.1186/1750-1172-5-28. PMID: 20946626Free PMC Article

Clinical prediction guides

Müller S, Kluck R, Jagodzinski C, Brügelmann M, Hohenfellner K, Büscher A, Kemper MJ, Fröde K, Oh J, Billing H, Thumfart J, Weber LT, Acham-Roschitz B, Arbeiter K, Tönshoff B, Hagenberg M, Pavičić L, Haffner D, Zivicnjak M
Pediatr Nephrol 2023 Dec;38(12):3989-3999. Epub 2023 Jul 7 doi: 10.1007/s00467-023-06058-x. PMID: 37415042Free PMC Article
Reichold M, Klootwijk ED, Reinders J, Otto EA, Milani M, Broeker C, Laing C, Wiesner J, Devi S, Zhou W, Schmitt R, Tegtmeier I, Sterner C, Doellerer H, Renner K, Oefner PJ, Dettmer K, Simbuerger JM, Witzgall R, Stanescu HC, Dumitriu S, Iancu D, Patel V, Mozere M, Tekman M, Jaureguiberry G, Issler N, Kesselheim A, Walsh SB, Gale DP, Howie AJ, Martins JR, Hall AM, Kasgharian M, O'Brien K, Ferreira CR, Atwal PS, Jain M, Hammers A, Charles-Edwards G, Choe CU, Isbrandt D, Cebrian-Serrano A, Davies B, Sandford RN, Pugh C, Konecki DS, Povey S, Bockenhauer D, Lichter-Konecki U, Gahl WA, Unwin RJ, Warth R, Kleta R
J Am Soc Nephrol 2018 Jul;29(7):1849-1858. Epub 2018 Apr 13 doi: 10.1681/ASN.2017111179. PMID: 29654216Free PMC Article
Kleta R, Bockenhauer D
J Am Soc Nephrol 2018 Mar;29(3):727-739. Epub 2017 Dec 13 doi: 10.1681/ASN.2017060600. PMID: 29237739Free PMC Article
Nielsen R, Christensen EI, Birn H
Kidney Int 2016 Jan;89(1):58-67. doi: 10.1016/j.kint.2015.11.007. PMID: 26759048
Duran M, Loof NE, Ketting D, Dorland L
J Clin Chem Clin Biochem 1990 May;28(5):359-63. PMID: 2199597

Recent systematic reviews

Viering DHHM, Vermeltfoort L, Bindels RJM, Deinum J, de Baaij JHF
J Am Soc Nephrol 2023 Nov 1;34(11):1875-1888. Epub 2023 Sep 6 doi: 10.1681/ASN.0000000000000224. PMID: 37678265Free PMC Article
Anguissola G, Leu D, Simonetti GD, Simonetti BG, Lava SAG, Milani GP, Bianchetti MG, Scoglio M
Pediatr Nephrol 2023 Jun;38(6):1725-1731. Epub 2023 Jan 16 doi: 10.1007/s00467-022-05869-8. PMID: 36645492Free PMC Article
Kasimer RN, Langman CB
Pediatr Nephrol 2021 Feb;36(2):223-236. Epub 2020 Feb 3 doi: 10.1007/s00467-020-04487-6. PMID: 32016627
Medic G, van der Weijden M, Karabis A, Hemels M
Curr Med Res Opin 2017 Nov;33(11):2065-2076. Epub 2017 Aug 3 doi: 10.1080/03007995.2017.1354288. PMID: 28692321
Balak DM, Fallah Arani S, Hajdarbegovic E, Hagemans CA, Bramer WM, Thio HB, Neumann HA
Br J Dermatol 2016 Aug;175(2):250-62. Epub 2016 Jul 19 doi: 10.1111/bjd.14500. PMID: 26919824

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...