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Hereditary nephritis

MedGen UID:
10305
•Concept ID:
C0027706
•
Disease or Syndrome
Synonyms: Familial Nephritis; Hereditary Interstitial Pyelonephritis; Hereditary Nephritis; Nephritis, Familial; Nephritis, Hereditary; Pyelonephritis, Hereditary Interstitial
SNOMED CT: Hereditary nephritis (399340005); GN - Hereditary glomerulonephritis (399340005); Hereditary glomerulonephritis (399340005)
 
Monarch Initiative: MONDO:0005334

Definition

A group of inherited conditions characterized initially by hematuria and slowly progressing to renal insufficiency. The most common form is the Alport syndrome (hereditary nephritis with hearing loss) which is caused by mutations in genes for type IV collagen and defective glomerular basement membrane. [from MONDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHereditary nephritis

Professional guidelines

PubMed

The value of clinical criteria in identifying patients with X-linked Alport syndrome.
Hanson H, Storey H, Pagan J, Flinter F
Clin J Am Soc Nephrol 2011 Jan;6(1):198-203. Epub 2010 Sep 30 doi: 10.2215/CJN.00200110. PMID: 20884774Free PMC Article
Psychosocial impact of an X-linked hereditary disease: a study of Alport syndrome patients and family members.
Pajari H, Sinkkonen J
Child Care Health Dev 2000 May;26(3):239-50. doi: 10.1046/j.1365-2214.2000.00140.x. PMID: 10921441

Recent clinical studies

Etiology

Effects of Bardoxolone Methyl in Alport Syndrome.
Warady BA, Pergola PE, Agarwal R, Andreoli S, Appel GB, Bangalore S, Block GA, Chapman AB, Chin MP, Gibson KL, Goldsberry A, Iijima K, Inker LA, Kashtan CE, Knebelmann B, Mariani LH, Meyer CJ, Nozu K, O'Grady M, Rheault MN, Silva AL, Stenvinkel P, Torra R, Chertow GM
Clin J Am Soc Nephrol 2022 Dec;17(12):1763-1774. Epub 2022 Nov 21 doi: 10.2215/CJN.02400222. PMID: 36411058Free PMC Article
Digenic Alport Syndrome.
Savige J, Renieri A, Ars E, Daga S, Pinto AM, Rothe H, Gale DP, Aksenova M, Cerkauskaite A, Bielska O, Lipska-Zietkiewicz B, Gibson JT
Clin J Am Soc Nephrol 2022 Nov;17(11):1697-1706. Epub 2022 Jun 8 doi: 10.2215/CJN.03120322. PMID: 35675912Free PMC Article
Guidelines for Genetic Testing and Management of Alport Syndrome.
Savige J, Lipska-Zietkiewicz BS, Watson E, Hertz JM, Deltas C, Mari F, Hilbert P, Plevova P, Byers P, Cerkauskaite A, Gregory M, Cerkauskiene R, Ljubanovic DG, Becherucci F, Errichiello C, Massella L, Aiello V, Lennon R, Hopkinson L, Koziell A, Lungu A, Rothe HM, Hoefele J, Zacchia M, Martic TN, Gupta A, van Eerde A, Gear S, Landini S, Palazzo V, Al-Rabadi L, Claes K, Corveleyn A, Van Hoof E, van Geel M, Williams M, Ashton E, Belge H, Ars E, Bierzynska A, Gangemi C, Renieri A, Storey H, Flinter F
Clin J Am Soc Nephrol 2022 Jan;17(1):143-154. Epub 2021 Dec 20 doi: 10.2215/CJN.04230321. PMID: 34930753Free PMC Article
Alport Syndrome: Achieving Early Diagnosis and Treatment.
Kashtan CE
Am J Kidney Dis 2021 Feb;77(2):272-279. Epub 2020 Jul 22 doi: 10.1053/j.ajkd.2020.03.026. PMID: 32712016
A review of clinical characteristics and genetic backgrounds in Alport syndrome.
Nozu K, Nakanishi K, Abe Y, Udagawa T, Okada S, Okamoto T, Kaito H, Kanemoto K, Kobayashi A, Tanaka E, Tanaka K, Hama T, Fujimaru R, Miwa S, Yamamura T, Yamamura N, Horinouchi T, Minamikawa S, Nagata M, Iijima K
Clin Exp Nephrol 2019 Feb;23(2):158-168. Epub 2018 Aug 20 doi: 10.1007/s10157-018-1629-4. PMID: 30128941Free PMC Article

Diagnosis

Guidelines for Genetic Testing and Management of Alport Syndrome.
Savige J, Lipska-Zietkiewicz BS, Watson E, Hertz JM, Deltas C, Mari F, Hilbert P, Plevova P, Byers P, Cerkauskaite A, Gregory M, Cerkauskiene R, Ljubanovic DG, Becherucci F, Errichiello C, Massella L, Aiello V, Lennon R, Hopkinson L, Koziell A, Lungu A, Rothe HM, Hoefele J, Zacchia M, Martic TN, Gupta A, van Eerde A, Gear S, Landini S, Palazzo V, Al-Rabadi L, Claes K, Corveleyn A, Van Hoof E, van Geel M, Williams M, Ashton E, Belge H, Ars E, Bierzynska A, Gangemi C, Renieri A, Storey H, Flinter F
Clin J Am Soc Nephrol 2022 Jan;17(1):143-154. Epub 2021 Dec 20 doi: 10.2215/CJN.04230321. PMID: 34930753Free PMC Article
Clinical practice recommendations for the diagnosis and management of Alport syndrome in children, adolescents, and young adults-an update for 2020.
Kashtan CE, Gross O
Pediatr Nephrol 2021 Mar;36(3):711-719. Epub 2020 Nov 6 doi: 10.1007/s00467-020-04819-6. PMID: 33159213
Alport Syndrome: Achieving Early Diagnosis and Treatment.
Kashtan CE
Am J Kidney Dis 2021 Feb;77(2):272-279. Epub 2020 Jul 22 doi: 10.1053/j.ajkd.2020.03.026. PMID: 32712016
A review of clinical characteristics and genetic backgrounds in Alport syndrome.
Nozu K, Nakanishi K, Abe Y, Udagawa T, Okada S, Okamoto T, Kaito H, Kanemoto K, Kobayashi A, Tanaka E, Tanaka K, Hama T, Fujimaru R, Miwa S, Yamamura T, Yamamura N, Horinouchi T, Minamikawa S, Nagata M, Iijima K
Clin Exp Nephrol 2019 Feb;23(2):158-168. Epub 2018 Aug 20 doi: 10.1007/s10157-018-1629-4. PMID: 30128941Free PMC Article
Alport syndrome: a unified classification of genetic disorders of collagen IV α345: a position paper of the Alport Syndrome Classification Working Group.
Kashtan CE, Ding J, Garosi G, Heidet L, Massella L, Nakanishi K, Nozu K, Renieri A, Rheault M, Wang F, Gross O
Kidney Int 2018 May;93(5):1045-1051. Epub 2018 Mar 16 doi: 10.1016/j.kint.2017.12.018. PMID: 29551517

Therapy

Effects of Bardoxolone Methyl in Alport Syndrome.
Warady BA, Pergola PE, Agarwal R, Andreoli S, Appel GB, Bangalore S, Block GA, Chapman AB, Chin MP, Gibson KL, Goldsberry A, Iijima K, Inker LA, Kashtan CE, Knebelmann B, Mariani LH, Meyer CJ, Nozu K, O'Grady M, Rheault MN, Silva AL, Stenvinkel P, Torra R, Chertow GM
Clin J Am Soc Nephrol 2022 Dec;17(12):1763-1774. Epub 2022 Nov 21 doi: 10.2215/CJN.02400222. PMID: 36411058Free PMC Article
Genotype-phenotype correlations and nephroprotective effects of RAAS inhibition in patients with autosomal recessive Alport syndrome.
Zhang Y, Böckhaus J, Wang F, Wang S, Rubel D, Gross O, Ding J
Pediatr Nephrol 2021 Sep;36(9):2719-2730. Epub 2021 Mar 27 doi: 10.1007/s00467-021-05040-9. PMID: 33772369Free PMC Article
Alport Syndrome: Achieving Early Diagnosis and Treatment.
Kashtan CE
Am J Kidney Dis 2021 Feb;77(2):272-279. Epub 2020 Jul 22 doi: 10.1053/j.ajkd.2020.03.026. PMID: 32712016
A multicenter, randomized, placebo-controlled, double-blind phase 3 trial with open-arm comparison indicates safety and efficacy of nephroprotective therapy with ramipril in children with Alport's syndrome.
Gross O, Tönshoff B, Weber LT, Pape L, Latta K, Fehrenbach H, Lange-Sperandio B, Zappel H, Hoyer P, Staude H, König S, John U, Gellermann J, Hoppe B, Galiano M, Hoecker B, Ehren R, Lerch C, Kashtan CE, Harden M, Boeckhaus J, Friede T; German Pediatric Nephrology (GPN) Study Group and EARLY PRO-TECT Alport Investigators
Kidney Int 2020 Jun;97(6):1275-1286. Epub 2020 Jan 17 doi: 10.1016/j.kint.2019.12.015. PMID: 32299679
Acute glomerulonephritis.
Srivastava RN
Indian J Pediatr 1999 Mar-Apr;66(2):199-205. doi: 10.1007/BF02761208. PMID: 10798062

Prognosis

Current and Future Therapeutical Options in Alport Syndrome.
Reiterová J, Tesař V
Int J Mol Sci 2023 Mar 14;24(6) doi: 10.3390/ijms24065522. PMID: 36982595Free PMC Article
Digenic Alport Syndrome.
Savige J, Renieri A, Ars E, Daga S, Pinto AM, Rothe H, Gale DP, Aksenova M, Cerkauskaite A, Bielska O, Lipska-Zietkiewicz B, Gibson JT
Clin J Am Soc Nephrol 2022 Nov;17(11):1697-1706. Epub 2022 Jun 8 doi: 10.2215/CJN.03120322. PMID: 35675912Free PMC Article
Alport Syndrome: A Comprehensive Review on Genetics, Pathophysiology, Histology, Clinical and Therapeutic Perspectives.
Pedrosa AL, Bitencourt L, Paranhos RM, Leitáo CA, Ferreira GC, Simões E Silva AC
Curr Med Chem 2021;28(27):5602-5624. doi: 10.2174/0929867328666210108113500. PMID: 33423643
A review of clinical characteristics and genetic backgrounds in Alport syndrome.
Nozu K, Nakanishi K, Abe Y, Udagawa T, Okada S, Okamoto T, Kaito H, Kanemoto K, Kobayashi A, Tanaka E, Tanaka K, Hama T, Fujimaru R, Miwa S, Yamamura T, Yamamura N, Horinouchi T, Minamikawa S, Nagata M, Iijima K
Clin Exp Nephrol 2019 Feb;23(2):158-168. Epub 2018 Aug 20 doi: 10.1007/s10157-018-1629-4. PMID: 30128941Free PMC Article
Alport syndrome: a unified classification of genetic disorders of collagen IV α345: a position paper of the Alport Syndrome Classification Working Group.
Kashtan CE, Ding J, Garosi G, Heidet L, Massella L, Nakanishi K, Nozu K, Renieri A, Rheault M, Wang F, Gross O
Kidney Int 2018 May;93(5):1045-1051. Epub 2018 Mar 16 doi: 10.1016/j.kint.2017.12.018. PMID: 29551517

Clinical prediction guides

Current and Future Therapeutical Options in Alport Syndrome.
Reiterová J, Tesař V
Int J Mol Sci 2023 Mar 14;24(6) doi: 10.3390/ijms24065522. PMID: 36982595Free PMC Article
Digenic Alport Syndrome.
Savige J, Renieri A, Ars E, Daga S, Pinto AM, Rothe H, Gale DP, Aksenova M, Cerkauskaite A, Bielska O, Lipska-Zietkiewicz B, Gibson JT
Clin J Am Soc Nephrol 2022 Nov;17(11):1697-1706. Epub 2022 Jun 8 doi: 10.2215/CJN.03120322. PMID: 35675912Free PMC Article
Clinical and Genetic Features of Autosomal Dominant Alport Syndrome: A Cohort Study.
Furlano M, Martínez V, Pybus M, Arce Y, Crespí J, Venegas MDP, Bullich G, Domingo A, Ayasreh N, Benito S, Lorente L, Ruíz P, Gonzalez VL, Arlandis R, Cabello E, Torres F, Guirado L, Ars E, Torra R
Am J Kidney Dis 2021 Oct;78(4):560-570.e1. Epub 2021 Apr 7 doi: 10.1053/j.ajkd.2021.02.326. PMID: 33838161
Expert consensus guidelines for the genetic diagnosis of Alport syndrome.
Savige J, Ariani F, Mari F, Bruttini M, Renieri A, Gross O, Deltas C, Flinter F, Ding J, Gale DP, Nagel M, Yau M, Shagam L, Torra R, Ars E, Hoefele J, Garosi G, Storey H
Pediatr Nephrol 2019 Jul;34(7):1175-1189. Epub 2018 Jul 9 doi: 10.1007/s00467-018-3985-4. PMID: 29987460
Alport syndrome: a unified classification of genetic disorders of collagen IV α345: a position paper of the Alport Syndrome Classification Working Group.
Kashtan CE, Ding J, Garosi G, Heidet L, Massella L, Nakanishi K, Nozu K, Renieri A, Rheault M, Wang F, Gross O
Kidney Int 2018 May;93(5):1045-1051. Epub 2018 Mar 16 doi: 10.1016/j.kint.2017.12.018. PMID: 29551517

Recent systematic reviews

Effectiveness of renin-angiotensin-aldosterone system blockers in patients with Alport syndrome: a systematic review and meta-analysis.
Zeng M, Di H, Liang J, Liu Z
Nephrol Dial Transplant 2023 Oct 31;38(11):2485-2493. doi: 10.1093/ndt/gfad105. PMID: 37218713
Potential Renal Damage Biomarkers in Alport Syndrome-A Review of the Literature.
Gomes AM, Lopes D, Almeida C, Santos S, Malheiro J, Lousa I, Caldas Afonso A, Beirão I
Int J Mol Sci 2022 Jun 30;23(13) doi: 10.3390/ijms23137276. PMID: 35806283Free PMC Article
Evidence-based algorithm for the evaluation of a child with bilateral sensorineural hearing loss.
Morzaria S, Westerberg BD, Kozak FK
J Otolaryngol 2005 Oct;34(5):297-303. doi: 10.2310/7070.2005.34501. PMID: 16181590

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