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Nephrotic Syndrome - ADCK4 Associated

MedGen UID:
890422
Concept ID:
C4054400
Disease or Syndrome

Definition

Nephrotic syndrome attributed to mutation(s) in the ADCK4 gene. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVNephrotic Syndrome - ADCK4 Associated

Professional guidelines

PubMed

Atmaca M, Gülhan B, Atayar E, Bayazıt AK, Candan C, Arıcı M, Topaloğlu R, Özaltın F
Turk J Pediatr 2019;61(5):657-663. doi: 10.24953/turkjped.2019.05.003. PMID: 32104996

Recent clinical studies

Etiology

Wang S, Zhao F, Li L, Yu Z
Pediatr Transplant 2022 Feb;26(1):e14143. Epub 2021 Oct 3 doi: 10.1111/petr.14143. PMID: 34605136
Atmaca M, Gülhan B, Atayar E, Bayazıt AK, Candan C, Arıcı M, Topaloğlu R, Özaltın F
Turk J Pediatr 2019;61(5):657-663. doi: 10.24953/turkjped.2019.05.003. PMID: 32104996
Vazquez Fonseca L, Doimo M, Calderan C, Desbats MA, Acosta MJ, Cerqua C, Cassina M, Ashraf S, Hildebrandt F, Sartori G, Navas P, Trevisson E, Salviati L
Hum Mutat 2018 Mar;39(3):406-414. Epub 2017 Dec 18 doi: 10.1002/humu.23376. PMID: 29194833Free PMC Article
Tasic V, Gucev Z, Polenakovic M
Pril (Makedon Akad Nauk Umet Odd Med Nauki) 2015;36(3):5-12. doi: 10.1515/prilozi-2015-0073. PMID: 27442391
Desbats MA, Lunardi G, Doimo M, Trevisson E, Salviati L
J Inherit Metab Dis 2015 Jan;38(1):145-56. Epub 2014 Aug 5 doi: 10.1007/s10545-014-9749-9. PMID: 25091424

Diagnosis

Wang S, Zhao F, Li L, Yu Z
Pediatr Transplant 2022 Feb;26(1):e14143. Epub 2021 Oct 3 doi: 10.1111/petr.14143. PMID: 34605136
Yang J, Yang Y, Hu Z
Biochem Biophys Res Commun 2018 Nov 30;506(3):444-449. Epub 2018 Oct 21 doi: 10.1016/j.bbrc.2018.10.102. PMID: 30352687
Park E, Kang HG, Choi YH, Lee KB, Moon KC, Jeong HJ, Nagata M, Cheong HI
Pediatr Nephrol 2017 Sep;32(9):1547-1554. Epub 2017 Apr 12 doi: 10.1007/s00467-017-3657-9. PMID: 28405841
Korkmaz E, Lipska-Ziętkiewicz BS, Boyer O, Gribouval O, Fourrage C, Tabatabaei M, Schnaidt S, Gucer S, Kaymaz F, Arici M, Dinckan A, Mir S, Bayazit AK, Emre S, Balat A, Rees L, Shroff R, Bergmann C, Mourani C, Antignac C, Ozaltin F, Schaefer F; PodoNet Consortium
J Am Soc Nephrol 2016 Jan;27(1):63-8. Epub 2015 May 12 doi: 10.1681/ASN.2014121240. PMID: 25967120Free PMC Article
Tasic V, Gucev Z, Polenakovic M
Pril (Makedon Akad Nauk Umet Odd Med Nauki) 2015;36(3):5-12. doi: 10.1515/prilozi-2015-0073. PMID: 27442391

Therapy

Atmaca M, Gülhan B, Atayar E, Bayazıt AK, Candan C, Arıcı M, Topaloğlu R, Özaltın F
Turk J Pediatr 2019;61(5):657-663. doi: 10.24953/turkjped.2019.05.003. PMID: 32104996
Vazquez Fonseca L, Doimo M, Calderan C, Desbats MA, Acosta MJ, Cerqua C, Cassina M, Ashraf S, Hildebrandt F, Sartori G, Navas P, Trevisson E, Salviati L
Hum Mutat 2018 Mar;39(3):406-414. Epub 2017 Dec 18 doi: 10.1002/humu.23376. PMID: 29194833Free PMC Article
Ashraf S, Gee HY, Woerner S, Xie LX, Vega-Warner V, Lovric S, Fang H, Song X, Cattran DC, Avila-Casado C, Paterson AD, Nitschké P, Bole-Feysot C, Cochat P, Esteve-Rudd J, Haberberger B, Allen SJ, Zhou W, Airik R, Otto EA, Barua M, Al-Hamed MH, Kari JA, Evans J, Bierzynska A, Saleem MA, Böckenhauer D, Kleta R, El Desoky S, Hacihamdioglu DO, Gok F, Washburn J, Wiggins RC, Choi M, Lifton RP, Levy S, Han Z, Salviati L, Prokisch H, Williams DS, Pollak M, Clarke CF, Pei Y, Antignac C, Hildebrandt F
J Clin Invest 2013 Dec;123(12):5179-89. Epub 2013 Nov 25 doi: 10.1172/JCI69000. PMID: 24270420Free PMC Article

Prognosis

Wang S, Zhao F, Li L, Yu Z
Pediatr Transplant 2022 Feb;26(1):e14143. Epub 2021 Oct 3 doi: 10.1111/petr.14143. PMID: 34605136
Atmaca M, Gülhan B, Atayar E, Bayazıt AK, Candan C, Arıcı M, Topaloğlu R, Özaltın F
Turk J Pediatr 2019;61(5):657-663. doi: 10.24953/turkjped.2019.05.003. PMID: 32104996
Park E, Kang HG, Choi YH, Lee KB, Moon KC, Jeong HJ, Nagata M, Cheong HI
Pediatr Nephrol 2017 Sep;32(9):1547-1554. Epub 2017 Apr 12 doi: 10.1007/s00467-017-3657-9. PMID: 28405841
Tasic V, Gucev Z, Polenakovic M
Pril (Makedon Akad Nauk Umet Odd Med Nauki) 2015;36(3):5-12. doi: 10.1515/prilozi-2015-0073. PMID: 27442391

Clinical prediction guides

Yang J, Yang Y, Hu Z
Biochem Biophys Res Commun 2018 Nov 30;506(3):444-449. Epub 2018 Oct 21 doi: 10.1016/j.bbrc.2018.10.102. PMID: 30352687
Tasic V, Gucev Z, Polenakovic M
Pril (Makedon Akad Nauk Umet Odd Med Nauki) 2015;36(3):5-12. doi: 10.1515/prilozi-2015-0073. PMID: 27442391
Desbats MA, Lunardi G, Doimo M, Trevisson E, Salviati L
J Inherit Metab Dis 2015 Jan;38(1):145-56. Epub 2014 Aug 5 doi: 10.1007/s10545-014-9749-9. PMID: 25091424

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