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Infantile nephropathic cystinosis

MedGen UID:
760976
Concept ID:
C3537440
Disease or Syndrome
Synonym: Cystinosis, Infantile Nephropathic
SNOMED CT: Infantile nephropathic cystinosis (62332007)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Monarch Initiative: MONDO:0018467
OMIM®: 219800
Orphanet: ORPHA411629

Definition

A subtype of cystinosis characterized by an accumulation of cystine in the organs and tissues, particularly in the kidneys and eyes, and that clinically manifests from infancy with renal Fanconi syndrome, photophobia, hypothyroidism, impaired growth and rickets, in addition to various other systemic effects. Progressive extra-renal manifestations include hypothyroidism, hypogonadism and male infertility, insulin-dependent diabetes, hepatosplenomegaly with portal hypertension, muscle involvement with distal muscle weakness and atrophy, pharyngeal and oral dysfunction, swallowing difficulties, cerebral involvement with hypotonia, speech and walking difficulties, and cerebellar syndrome. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Veys K, Zadora W, Hohenfellner K, Bockenhauer D, Janssen MCH, Niaudet P, Servais A, Topaloglu R, Besouw M, Novo R, Haffner D, Kanzelmeyer N, Pape L, Wühl E, Harms E, Awan A, Sikora P, Ariceta G, van den Heuvel B, Levtchenko E
J Inherit Metab Dis 2023 Jan;46(1):43-54. Epub 2022 Oct 6 doi: 10.1002/jimd.12562. PMID: 36117148
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
Ariceta G, Giordano V, Santos F
Pediatr Nephrol 2019 Apr;34(4):571-578. Epub 2017 Dec 19 doi: 10.1007/s00467-017-3856-4. PMID: 29260317Free PMC Article

Recent clinical studies

Etiology

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 K, Zadora W, Hohenfellner K, Bockenhauer D, Janssen MCH, Niaudet P, Servais A, Topaloglu R, Besouw M, Novo R, Haffner D, Kanzelmeyer N, Pape L, Wühl E, Harms E, Awan A, Sikora P, Ariceta G, van den Heuvel B, Levtchenko E
J Inherit Metab Dis 2023 Jan;46(1):43-54. Epub 2022 Oct 6 doi: 10.1002/jimd.12562. PMID: 36117148
El Younsi M, Trabelsi M, Ben Youssef S, Ouertani I, Hammi Y, Achour A, Maazoul F, Kharrat M, Gargah T, M'rad R
Pediatr Nephrol 2023 Jan;38(1):119-129. Epub 2022 Apr 20 doi: 10.1007/s00467-022-05525-1. PMID: 35445972
Rohayem J, Haffner D, Cremers JF, Huss S, Wistuba J, Weitzel D, Kliesch S, Hohenfellner K
Hum Reprod 2021 Apr 20;36(5):1191-1204. doi: 10.1093/humrep/deab030. PMID: 33822926Free 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

Diagnosis

Keidel LF, Schworm B, Hohenfellner K, Kruse F, Priglinger S, Luft N, Priglinger C
Klin Monbl Augenheilkd 2023 Mar;240(3):266-275. Epub 2023 Mar 28 doi: 10.1055/s-0037-1599653. PMID: 36977427
Kruse F, Keidel LF, Priglinger S, Luft N, Priglinger C
Klin Monbl Augenheilkd 2023 Mar;240(3):260-265. Epub 2023 Jan 25 doi: 10.1055/a-2020-0926. PMID: 36696914
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
Rohayem J, Haffner D, Cremers JF, Huss S, Wistuba J, Weitzel D, Kliesch S, Hohenfellner K
Hum Reprod 2021 Apr 20;36(5):1191-1204. doi: 10.1093/humrep/deab030. PMID: 33822926Free PMC Article
Peco-Antić A, Kostić M, Bogdanović R, Spasojević B, Djordjević M, Paripović D, Kovacević D
Srp Arh Celok Lek 2011 Jul-Aug;139(7-8):486-90. PMID: 21980659

Therapy

Keidel LF, Schworm B, Hohenfellner K, Kruse F, Priglinger S, Luft N, Priglinger C
Klin Monbl Augenheilkd 2023 Mar;240(3):266-275. Epub 2023 Mar 28 doi: 10.1055/s-0037-1599653. PMID: 36977427
Veys K, Zadora W, Hohenfellner K, Bockenhauer D, Janssen MCH, Niaudet P, Servais A, Topaloglu R, Besouw M, Novo R, Haffner D, Kanzelmeyer N, Pape L, Wühl E, Harms E, Awan A, Sikora P, Ariceta G, van den Heuvel B, Levtchenko E
J Inherit Metab Dis 2023 Jan;46(1):43-54. Epub 2022 Oct 6 doi: 10.1002/jimd.12562. PMID: 36117148
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
Vill K, Müller-Felber W, Landfarth T, Köppl C, Herzig N, Knerr C, Holla H, Steidle G, Harms E, Hohenfellner K; Interdisciplinary Cystinosis Group
J Inherit Metab Dis 2022 Mar;45(2):183-191. Epub 2022 Jan 13 doi: 10.1002/jimd.12464. PMID: 34888877
Ariceta G, Giordano V, Santos F
Pediatr Nephrol 2019 Apr;34(4):571-578. Epub 2017 Dec 19 doi: 10.1007/s00467-017-3856-4. PMID: 29260317Free PMC Article

Prognosis

Keidel LF, Schworm B, Hohenfellner K, Kruse F, Priglinger S, Luft N, Priglinger C
Klin Monbl Augenheilkd 2023 Mar;240(3):266-275. Epub 2023 Mar 28 doi: 10.1055/s-0037-1599653. PMID: 36977427
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
Atmis B, K Bayazit A, Cevizli D, Kor D, Fidan HB, Bisgin A, Kilavuz S, Unal I, Erdogan KE, Melek E, Gonlusen G, Anarat A, Onenli Mungan N
J Nephrol 2022 Apr;35(3):831-840. Epub 2021 Jun 7 doi: 10.1007/s40620-021-01078-y. PMID: 34097292
Ariceta G, Giordano V, Santos F
Pediatr Nephrol 2019 Apr;34(4):571-578. Epub 2017 Dec 19 doi: 10.1007/s00467-017-3856-4. PMID: 29260317Free PMC Article
Peco-Antić A, Kostić M, Bogdanović R, Spasojević B, Djordjević M, Paripović D, Kovacević D
Srp Arh Celok Lek 2011 Jul-Aug;139(7-8):486-90. PMID: 21980659

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
Veys K, Zadora W, Hohenfellner K, Bockenhauer D, Janssen MCH, Niaudet P, Servais A, Topaloglu R, Besouw M, Novo R, Haffner D, Kanzelmeyer N, Pape L, Wühl E, Harms E, Awan A, Sikora P, Ariceta G, van den Heuvel B, Levtchenko E
J Inherit Metab Dis 2023 Jan;46(1):43-54. Epub 2022 Oct 6 doi: 10.1002/jimd.12562. PMID: 36117148
Haffner D, Leifheit-Nestler M, Alioli C, Bacchetta J
Cells 2022 Jan 5;11(1) doi: 10.3390/cells11010170. PMID: 35011732Free PMC Article
Atmis B, K Bayazit A, Cevizli D, Kor D, Fidan HB, Bisgin A, Kilavuz S, Unal I, Erdogan KE, Melek E, Gonlusen G, Anarat A, Onenli Mungan N
J Nephrol 2022 Apr;35(3):831-840. Epub 2021 Jun 7 doi: 10.1007/s40620-021-01078-y. PMID: 34097292
Rohayem J, Haffner D, Cremers JF, Huss S, Wistuba J, Weitzel D, Kliesch S, Hohenfellner K
Hum Reprod 2021 Apr 20;36(5):1191-1204. doi: 10.1093/humrep/deab030. PMID: 33822926Free PMC Article

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