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Nephropathic cystinosis(CTNS)

MedGen UID:
419735
Concept ID:
C2931187
Disease or Syndrome
Synonyms: Abderhalden Lignac Kaufmann disease; Abderhalden-Kaufmann-Lignac syndrome; CTNS; CYSTINOSIN, DEFECT OF; LYSOSOMAL CYSTINE TRANSPORT PROTEIN, DEFECT OF
SNOMED CT: Nephropathic cystinosis (62332007)
 
CTNS (17p13.2)
 
Monarch Initiative: MONDO:0100151
OMIM®: 219800

Disease characteristics

Excerpted from the GeneReview: Cystinosis
Cystinosis comprises three allelic phenotypes: Nephropathic cystinosis in untreated children is characterized by renal Fanconi syndrome, poor growth, hypophosphatemic/calcipenic rickets, impaired glomerular function resulting in complete glomerular failure, and accumulation of cystine in almost all cells, leading to cellular dysfunction with tissue and organ impairment. The typical untreated child has short stature, rickets, and photophobia. Failure to thrive is generally noticed after approximately age six months; signs of renal tubular Fanconi syndrome (polyuria, polydipsia, dehydration, and acidosis) appear as early as age six months; corneal crystals can be present before age one year and are always present after age 16 months. Prior to the use of renal transplantation and cystine-depleting therapy, the life span in nephropathic cystinosis was no longer than ten years. With these interventions, affected individuals can survive at least into the mid-forties or fifties with satisfactory quality of life. Intermediate cystinosis is characterized by all the typical manifestations of nephropathic cystinosis, but onset is at a later age. Renal glomerular failure occurs in all untreated affected individuals, usually between ages 15 and 25 years. The non-nephropathic (ocular) form of cystinosis is characterized clinically only by photophobia resulting from corneal cystine crystal accumulation. [from GeneReviews]
Authors:
Galina Nesterova  |  William A Gahl   view full author information

Additional description

From OMIM
Cystinosis has been classified as a lysosomal storage disorder on the basis of cytologic and other evidence pointing to the intralysosomal localization of stored cystine. Cystinosis differs from the other lysosomal diseases inasmuch as acid hydrolysis, the principal enzyme function of lysosomes, is not known to play a role in the metabolic disposition of cystine. The fact that plasma levels are well below saturation indicates that the defect is a cellular one. Within the cell, cystine is compartmentalized with acid phosphatase and is membrane-bound as demonstrated by electron microscopy. Ferritin accumulates in the same organelle which appears to be the lysosome.  http://www.omim.org/entry/219800

Clinical features

From HPO

Professional guidelines

PubMed

Hohenfellner K, Elenberg E, Ariceta G, Nesterova G, Soliman NA, Topaloglu R
Cells 2022 Mar 25;11(7) doi: 10.3390/cells11071109. PMID: 35406673Free PMC Article
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

Recent clinical studies

Etiology

Alonzi T, Aiello A, Sali M, Delogu G, Villella VR, Raia V, Nicastri E, Piacentini M, Goletti D
Biomed Pharmacother 2024 Sep;178:117153. Epub 2024 Jul 17 doi: 10.1016/j.biopha.2024.117153. PMID: 39024833
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
Veys KR, Elmonem MA, Arcolino FO, van den Heuvel L, Levtchenko E
Curr Opin Pediatr 2017 Apr;29(2):168-178. doi: 10.1097/MOP.0000000000000462. PMID: 28107209
Stokes MB, Jernigan S, D'Agati VD
Kidney Int 2008 Mar;73(6):782-6. Epub 2007 Dec 12 doi: 10.1038/sj.ki.5002730. PMID: 18075494
Mirdehghan M, Ahmadzadeh A, Bana-Behbahani M, Motlagh I, Chomali B
Indian Pediatr 2003 Jan;40(1):21-4. PMID: 12554913

Diagnosis

Mammo DA, McClelland CM, Lee MS
J Neuroophthalmol 2022 Mar 1;42(1):e315-e317. Epub 2021 Apr 14 doi: 10.1097/WNO.0000000000001211. PMID: 33870934
Schiefer J, Zenker M, Gröne HJ, Chatzikyrkou C, Mertens PR, Liakopoulos V
Kidney Int 2018 Nov;94(5):1027. doi: 10.1016/j.kint.2018.06.001. PMID: 30348293
Bishop R
J Pediatr 2017 Apr;183S:S19-S21. doi: 10.1016/j.jpeds.2016.12.055. PMID: 28343471
Stokes MB, Jernigan S, D'Agati VD
Kidney Int 2008 Mar;73(6):782-6. Epub 2007 Dec 12 doi: 10.1038/sj.ki.5002730. PMID: 18075494
Gahl WA
Pediatr Rev 1997 Sep;18(9):302-4. doi: 10.1542/pir.18-9-302. PMID: 9286148

Therapy

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
Bishop R
J Pediatr 2017 Apr;183S:S19-S21. doi: 10.1016/j.jpeds.2016.12.055. PMID: 28343471
Veys KR, Elmonem MA, Arcolino FO, van den Heuvel L, Levtchenko E
Curr Opin Pediatr 2017 Apr;29(2):168-178. doi: 10.1097/MOP.0000000000000462. PMID: 28107209
Mirdehghan M, Ahmadzadeh A, Bana-Behbahani M, Motlagh I, Chomali B
Indian Pediatr 2003 Jan;40(1):21-4. PMID: 12554913
Rizzo C, Ribes A, Pastore A, Dionisi-Vici C, Greco M, Rizzoni G, Federici G
J Inherit Metab Dis 1999 May;22(3):224-6. doi: 10.1023/a:1005545012776. PMID: 10384373

Prognosis

Emma F, Montini G, Pennesi M, Peruzzi L, Verrina E, Goffredo BM, Canalini F, Cassiman D, Rossi S, Levtchenko E
Cells 2022 Jun 4;11(11) doi: 10.3390/cells11111839. PMID: 35681534Free PMC Article
Veys KR, Elmonem MA, Arcolino FO, van den Heuvel L, Levtchenko E
Curr Opin Pediatr 2017 Apr;29(2):168-178. doi: 10.1097/MOP.0000000000000462. PMID: 28107209
Emma F, Nesterova G, Langman C, Labbé A, Cherqui S, Goodyer P, Janssen MC, Greco M, Topaloglu R, Elenberg E, Dohil R, Trauner D, Antignac C, Cochat P, Kaskel F, Servais A, Wühl E, Niaudet P, Van't Hoff W, Gahl W, Levtchenko E
Nephrol Dial Transplant 2014 Sep;29 Suppl 4(Suppl 4):iv87-94. doi: 10.1093/ndt/gfu090. PMID: 25165189Free PMC Article
Stokes MB, Jernigan S, D'Agati VD
Kidney Int 2008 Mar;73(6):782-6. Epub 2007 Dec 12 doi: 10.1038/sj.ki.5002730. PMID: 18075494
Gahl WA
Pediatr Rev 1997 Sep;18(9):302-4. doi: 10.1542/pir.18-9-302. PMID: 9286148

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
Haffner D, Leifheit-Nestler M, Alioli C, Bacchetta J
Cells 2022 Jan 5;11(1) doi: 10.3390/cells11010170. PMID: 35011732Free PMC Article
Das D, Sinha R, Dey S
Indian Pediatr 2019 Apr 15;56(4):325-327. PMID: 31064905
Taranta A, Petrini S, Palma A, Mannucci L, Wilmer MJ, De Luca V, Diomedi-Camassei F, Corallini S, Bellomo F, van den Heuvel LP, Levtchenko EN, Emma F
Am J Physiol Renal Physiol 2008 May;294(5):F1101-8. Epub 2008 Mar 12 doi: 10.1152/ajprenal.00413.2007. PMID: 18337546
Gahl WA, Kuehl EM, Iwata F, Lindblad A, Kaiser-Kupfer MI
Mol Genet Metab 2000 Sep-Oct;71(1-2):100-20. doi: 10.1006/mgme.2000.3062. PMID: 11001803

Recent systematic reviews

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

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