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Hereditary Nephrotic Syndromes, Autosomal Dominant

MedGen UID:
432731
•Concept ID:
CN043612
•
Disease or Syndrome
Related genes: CRB2, INF2, ANLN, CD2AP, APOL1, WT1, TRPC6, PAX2, MYO1E, LMX1B, ACTN4

Term Hierarchy

Recent clinical studies

Etiology

Exome Sequencing and Identification of Phenocopies in Patients With Clinically Presumed Hereditary Nephropathies.
Riedhammer KM, Braunisch MC, Günthner R, Wagner M, Hemmer C, Strom TM, Schmaderer C, Renders L, Tasic V, Gucev Z, Nushi-Stavileci V, Putnik J, Stajić N, Weidenbusch M, Uetz B, Montoya C, Strotmann P, Ponsel S, Lange-Sperandio B, Hoefele J
Am J Kidney Dis 2020 Oct;76(4):460-470. Epub 2020 Apr 28 doi: 10.1053/j.ajkd.2019.12.008. PMID: 32359821
Endoplasmic reticulum stress and monogenic kidney diseases in precision nephrology.
Park SJ, Kim Y, Chen YM
Pediatr Nephrol 2019 Sep;34(9):1493-1500. Epub 2018 Aug 11 doi: 10.1007/s00467-018-4031-2. PMID: 30099615Free PMC Article
Clinical and genetic heterogeneity in familial steroid-sensitive nephrotic syndrome.
Dorval G, Gribouval O, Martinez-Barquero V, Machuca E, Tête MJ, Baudouin V, Benoit S, Chabchoub I, Champion G, Chauveau D, Chehade H, Chouchane C, Cloarec S, Cochat P, Dahan K, Dantal J, Delmas Y, Deschênes G, Dolhem P, Durand D, Ekinci Z, El Karoui K, Fischbach M, Grunfeld JP, Guigonis V, Hachicha M, Hogan J, Hourmant M, Hummel A, Kamar N, Krummel T, Lacombe D, Llanas B, Mesnard L, Mohsin N, Niaudet P, Nivet H, Parvex P, Pietrement C, de Pontual L, Noble CP, Ribes D, Ronco P, Rondeau E, Sallee M, Tsimaratos M, Ulinski T, Salomon R, Antignac C, Boyer O
Pediatr Nephrol 2018 Mar;33(3):473-483. Epub 2017 Oct 23 doi: 10.1007/s00467-017-3819-9. PMID: 29058154
Molecular basis of autosomal dominant hypercholesterolemia: assessment in a large cohort of hypercholesterolemic children.
van der Graaf A, Avis HJ, Kusters DM, Vissers MN, Hutten BA, Defesche JC, Huijgen R, Fouchier SW, Wijburg FA, Kastelein JJ, Wiegman A
Circulation 2011 Mar 22;123(11):1167-73. Epub 2011 Mar 7 doi: 10.1161/CIRCULATIONAHA.110.979450. PMID: 21382890
Living donor kidney transplantation in patients with hereditary nephropathies.
Niaudet P
Nat Rev Nephrol 2010 Dec;6(12):736-43. Epub 2010 Sep 28 doi: 10.1038/nrneph.2010.122. PMID: 20877305

Diagnosis

The causes and consequences of paediatric kidney disease on adult nephrology care.
Pepper RJ, Trompeter RS
Pediatr Nephrol 2022 Jun;37(6):1245-1261. Epub 2021 Aug 13 doi: 10.1007/s00467-021-05182-w. PMID: 34389906
Exome Sequencing and Identification of Phenocopies in Patients With Clinically Presumed Hereditary Nephropathies.
Riedhammer KM, Braunisch MC, Günthner R, Wagner M, Hemmer C, Strom TM, Schmaderer C, Renders L, Tasic V, Gucev Z, Nushi-Stavileci V, Putnik J, Stajić N, Weidenbusch M, Uetz B, Montoya C, Strotmann P, Ponsel S, Lange-Sperandio B, Hoefele J
Am J Kidney Dis 2020 Oct;76(4):460-470. Epub 2020 Apr 28 doi: 10.1053/j.ajkd.2019.12.008. PMID: 32359821
Endoplasmic reticulum stress and monogenic kidney diseases in precision nephrology.
Park SJ, Kim Y, Chen YM
Pediatr Nephrol 2019 Sep;34(9):1493-1500. Epub 2018 Aug 11 doi: 10.1007/s00467-018-4031-2. PMID: 30099615Free PMC Article
Carriers of Autosomal Recessive Alport Syndrome with Thin Basement Membrane Nephropathy Presenting as Focal Segmental Glomerulosclerosis in Later Life.
Deltas C, Savva I, Voskarides K, Papazachariou L, Pierides A
Nephron 2015;130(4):271-80. Epub 2015 Jul 17 doi: 10.1159/000435789. PMID: 26201269
Approach to the evaluation of heritable diseases and update on familial focal segmental glomerulosclerosis.
Winn MP
Nephrol Dial Transplant 2003 Aug;18 Suppl 6:vi14-20. doi: 10.1093/ndt/gfg1070. PMID: 12953036

Therapy

A child with genetic FN1 mutation in the absence of classic glomerulopathy with fibronectin deposits(GFND) findings on biopsy.
Yang XQ, Shen T
BMC Nephrol 2022 Jul 14;23(1):250. doi: 10.1186/s12882-022-02872-x. PMID: 35836154Free PMC Article
Clinical and genetic heterogeneity in familial steroid-sensitive nephrotic syndrome.
Dorval G, Gribouval O, Martinez-Barquero V, Machuca E, Tête MJ, Baudouin V, Benoit S, Chabchoub I, Champion G, Chauveau D, Chehade H, Chouchane C, Cloarec S, Cochat P, Dahan K, Dantal J, Delmas Y, Deschênes G, Dolhem P, Durand D, Ekinci Z, El Karoui K, Fischbach M, Grunfeld JP, Guigonis V, Hachicha M, Hogan J, Hourmant M, Hummel A, Kamar N, Krummel T, Lacombe D, Llanas B, Mesnard L, Mohsin N, Niaudet P, Nivet H, Parvex P, Pietrement C, de Pontual L, Noble CP, Ribes D, Ronco P, Rondeau E, Sallee M, Tsimaratos M, Ulinski T, Salomon R, Antignac C, Boyer O
Pediatr Nephrol 2018 Mar;33(3):473-483. Epub 2017 Oct 23 doi: 10.1007/s00467-017-3819-9. PMID: 29058154
Steroid-resistant nephrotic syndrome as the initial presentation of nail-patella syndrome: a case of a de novo LMX1B mutation.
Nakata T, Ishida R, Mihara Y, Fujii A, Inoue Y, Kusaba T, Isojima T, Harita Y, Kanda C, Kitanaka S, Tamagaki K
BMC Nephrol 2017 Mar 23;18(1):100. doi: 10.1186/s12882-017-0516-7. PMID: 28335748Free PMC Article
Molecular basis of steroid-resistant nephrotic syndrome.
Antignac C
Nefrologia 2005;25 Suppl 2:25-8. PMID: 16050398

Prognosis

A child with genetic FN1 mutation in the absence of classic glomerulopathy with fibronectin deposits(GFND) findings on biopsy.
Yang XQ, Shen T
BMC Nephrol 2022 Jul 14;23(1):250. doi: 10.1186/s12882-022-02872-x. PMID: 35836154Free PMC Article
MAGI2 Mutations Cause Congenital Nephrotic Syndrome.
Bierzynska A, Soderquest K, Dean P, Colby E, Rollason R, Jones C, Inward CD, McCarthy HJ, Simpson MA, Lord GM, Williams M, Welsh GI, Koziell AB, Saleem MA; NephroS; UK study of Nephrotic Syndrome
J Am Soc Nephrol 2017 May;28(5):1614-1621. Epub 2016 Dec 8 doi: 10.1681/ASN.2016040387. PMID: 27932480Free PMC Article
Pregnancy outcomes in patients with Alport syndrome.
Yefet E, Tovbin D, Nachum Z
Arch Gynecol Obstet 2016 Apr;293(4):739-47. Epub 2015 Sep 28 doi: 10.1007/s00404-015-3893-9. PMID: 26411580
New TRPC6 gain-of-function mutation in a non-consanguineous Dutch family with late-onset focal segmental glomerulosclerosis.
Hofstra JM, Lainez S, van Kuijk WH, Schoots J, Baltissen MP, Hoefsloot LH, Knoers NV, Berden JH, Bindels RJ, van der Vlag J, Hoenderop JG, Wetzels JF, Nijenhuis T
Nephrol Dial Transplant 2013 Jul;28(7):1830-8. Epub 2013 Jan 4 doi: 10.1093/ndt/gfs572. PMID: 23291369
2007 Young Investigator Award: TRP'ing into a new era for glomerular disease.
Winn MP
J Am Soc Nephrol 2008 Jun;19(6):1071-5. Epub 2008 Apr 23 doi: 10.1681/ASN.2007121292. PMID: 18434567

Clinical prediction guides

SPTB related spherocytosis in a three-generation family presenting with kidney failure in adulthood due to co-occurrence of UMOD disease causing variant.
Meglic A, Debeljak M, Kovac J, Trampus Bakija A, Rajic V, Kojc N, Trebusak Podkrajsek K
Nefrologia (Engl Ed) 2020 Jul-Aug;40(4):421-428. Epub 2020 Feb 26 doi: 10.1016/j.nefro.2019.10.009. PMID: 32113667
MAGI2 Mutations Cause Congenital Nephrotic Syndrome.
Bierzynska A, Soderquest K, Dean P, Colby E, Rollason R, Jones C, Inward CD, McCarthy HJ, Simpson MA, Lord GM, Williams M, Welsh GI, Koziell AB, Saleem MA; NephroS; UK study of Nephrotic Syndrome
J Am Soc Nephrol 2017 May;28(5):1614-1621. Epub 2016 Dec 8 doi: 10.1681/ASN.2016040387. PMID: 27932480Free PMC Article
Mutations in podocyte genes are a rare cause of primary FSGS associated with ESRD in adult patients.
Büscher AK, Konrad M, Nagel M, Witzke O, Kribben A, Hoyer PF, Weber S
Clin Nephrol 2012 Jul;78(1):47-53. doi: 10.5414/cn107320. PMID: 22732337
Clinical and genetic heterogeneity in familial focal segmental glomerulosclerosis. International Collaborative Group for the Study of Familial Focal Segmental Glomerulosclerosis.
Winn MP, Conlon PJ, Lynn KL, Howell DN, Gross DA, Rogala AR, Smith AH, Graham FL, Bembe M, Quarles LD, Pericak-Vance MA, Vance JM
Kidney Int 1999 Apr;55(4):1241-6. doi: 10.1046/j.1523-1755.1999.00384.x. PMID: 10200986
A clinicopathological study of Alport syndrome and detection of type IV collagen chains in Alport patients.
Chen N, Pan X, Ren H, Dong D
Chin Med J (Engl) 1998 Sep;111(9):797-802. PMID: 11155669

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