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Nephrotic Syndrome - DGKE Associated

MedGen UID:
882145
•Concept ID:
C4054389
•
Disease or Syndrome

Definition

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

Term Hierarchy

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

Professional guidelines

PubMed

Genomic and clinical profiling of a national nephrotic syndrome cohort advocates a precision medicine approach to disease management.
Bierzynska A, McCarthy HJ, Soderquest K, Sen ES, Colby E, Ding WY, Nabhan MM, Kerecuk L, Hegde S, Hughes D, Marks S, Feather S, Jones C, Webb NJ, Ognjanovic M, Christian M, Gilbert RD, Sinha MD, Lord GM, Simpson M, Koziell AB, Welsh GI, Saleem MA
Kidney Int 2017 Apr;91(4):937-947. Epub 2017 Jan 20 doi: 10.1016/j.kint.2016.10.013. PMID: 28117080

Recent clinical studies

Etiology

Genetic diagnosis of steroid-resistant nephrotic syndrome in a longitudinal collection of Czech and Slovak patients: a high proportion of causative variants in NUP93.
Bezdíčka M, Štolbová Š, Seeman T, Cinek O, Malina M, Šimánková N, Průhová Š, Zieg J
Pediatr Nephrol 2018 Aug;33(8):1347-1363. Epub 2018 Jun 4 doi: 10.1007/s00467-018-3950-2. PMID: 29869118
Genomic and clinical profiling of a national nephrotic syndrome cohort advocates a precision medicine approach to disease management.
Bierzynska A, McCarthy HJ, Soderquest K, Sen ES, Colby E, Ding WY, Nabhan MM, Kerecuk L, Hegde S, Hughes D, Marks S, Feather S, Jones C, Webb NJ, Ognjanovic M, Christian M, Gilbert RD, Sinha MD, Lord GM, Simpson M, Koziell AB, Welsh GI, Saleem MA
Kidney Int 2017 Apr;91(4):937-947. Epub 2017 Jan 20 doi: 10.1016/j.kint.2016.10.013. PMID: 28117080

Diagnosis

Genetic diagnosis of steroid-resistant nephrotic syndrome in a longitudinal collection of Czech and Slovak patients: a high proportion of causative variants in NUP93.
Bezdíčka M, Štolbová Š, Seeman T, Cinek O, Malina M, Šimánková N, Průhová Š, Zieg J
Pediatr Nephrol 2018 Aug;33(8):1347-1363. Epub 2018 Jun 4 doi: 10.1007/s00467-018-3950-2. PMID: 29869118
Genomic and clinical profiling of a national nephrotic syndrome cohort advocates a precision medicine approach to disease management.
Bierzynska A, McCarthy HJ, Soderquest K, Sen ES, Colby E, Ding WY, Nabhan MM, Kerecuk L, Hegde S, Hughes D, Marks S, Feather S, Jones C, Webb NJ, Ognjanovic M, Christian M, Gilbert RD, Sinha MD, Lord GM, Simpson M, Koziell AB, Welsh GI, Saleem MA
Kidney Int 2017 Apr;91(4):937-947. Epub 2017 Jan 20 doi: 10.1016/j.kint.2016.10.013. PMID: 28117080
The expanding phenotypic spectra of kidney diseases: insights from genetic studies.
Stokman MF, Renkema KY, Giles RH, Schaefer F, Knoers NV, van Eerde AM
Nat Rev Nephrol 2016 Aug;12(8):472-83. Epub 2016 Jul 4 doi: 10.1038/nrneph.2016.87. PMID: 27374918

Prognosis

Various phenotypes of disease associated with mutated DGKE gene.
Bezdíčka M, Pavlíček P, Bláhová K, Háček J, Zieg J
Eur J Med Genet 2020 Aug;63(8):103953. Epub 2020 May 13 doi: 10.1016/j.ejmg.2020.103953. PMID: 32413569
Genomic and clinical profiling of a national nephrotic syndrome cohort advocates a precision medicine approach to disease management.
Bierzynska A, McCarthy HJ, Soderquest K, Sen ES, Colby E, Ding WY, Nabhan MM, Kerecuk L, Hegde S, Hughes D, Marks S, Feather S, Jones C, Webb NJ, Ognjanovic M, Christian M, Gilbert RD, Sinha MD, Lord GM, Simpson M, Koziell AB, Welsh GI, Saleem MA
Kidney Int 2017 Apr;91(4):937-947. Epub 2017 Jan 20 doi: 10.1016/j.kint.2016.10.013. PMID: 28117080

Clinical prediction guides

Genomic and clinical profiling of a national nephrotic syndrome cohort advocates a precision medicine approach to disease management.
Bierzynska A, McCarthy HJ, Soderquest K, Sen ES, Colby E, Ding WY, Nabhan MM, Kerecuk L, Hegde S, Hughes D, Marks S, Feather S, Jones C, Webb NJ, Ognjanovic M, Christian M, Gilbert RD, Sinha MD, Lord GM, Simpson M, Koziell AB, Welsh GI, Saleem MA
Kidney Int 2017 Apr;91(4):937-947. Epub 2017 Jan 20 doi: 10.1016/j.kint.2016.10.013. PMID: 28117080
The expanding phenotypic spectra of kidney diseases: insights from genetic studies.
Stokman MF, Renkema KY, Giles RH, Schaefer F, Knoers NV, van Eerde AM
Nat Rev Nephrol 2016 Aug;12(8):472-83. Epub 2016 Jul 4 doi: 10.1038/nrneph.2016.87. PMID: 27374918

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