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Progressive hereditary glomerulonephritis without deafness(RFH1)

MedGen UID:
98012
•Concept ID:
C0403443
•
Disease or Syndrome
Synonyms: Autosomal dominant progressive nephropathy with hypertension; NEPHRITIS, FAMILIAL, WITHOUT DEAFNESS OR OCULAR DEFECT; NEPHROPATHY, FAMILIAL; RENAL FAILURE, ADULT-ONSET; RENAL FAILURE, PROGRESSIVE, WITH HYPERTENSION; RFH1
SNOMED CT: Progressive hereditary glomerulonephritis without deafness (236419006); Familial nephropathy (236419006)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal dominant inheritance (Orphanet)
 
Monarch Initiative: MONDO:0008071
OMIM®: 161900
Orphanet: ORPHA88659

Definition

A rare, genetic hypertension characterized by an adult onset of increased blood pressure associated with nephropathy progressing to end-stage renal disease. Renal biopsy may show interstitial fibrosis, glomerulosclerosis and mild tubular atrophy. Increased serum creatinine and proteinuria have also been reported. [from ORDO]

Clinical features

From HPO
Proteinuria
MedGen UID:
10976
•Concept ID:
C0033687
•
Finding
Increased levels of protein in the urine.
See: Feature record | Search on this feature
Microscopic hematuria
MedGen UID:
65997
•Concept ID:
C0239937
•
Finding
Microscopic hematuria detected by dipstick or microscopic examination of the urine.
See: Feature record | Search on this feature
Renal insufficiency
MedGen UID:
332529
•Concept ID:
C1565489
•
Disease or Syndrome
A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism.
See: Feature record | Search on this feature
Stage 5 chronic kidney disease
MedGen UID:
384526
•Concept ID:
C2316810
•
Disease or Syndrome
A degree of kidney failure severe enough to require dialysis or kidney transplantation for survival characterized by a severe reduction in glomerular filtration rate (less than 15 ml/min/1.73 m2) and other manifestations including increased serum creatinine.
See: Feature record | Search on this feature
Hypertensive disorder
MedGen UID:
6969
•Concept ID:
C0020538
•
Disease or Syndrome
The presence of chronic increased pressure in the systemic arterial system.
See: Feature record | Search on this feature
Nephritis
MedGen UID:
14328
•Concept ID:
C0027697
•
Disease or Syndrome
The presence of inflammation affecting the kidney.
See: Feature record | Search on this feature
Elevated circulating creatinine concentration
MedGen UID:
148579
•Concept ID:
C0700225
•
Finding
An increased amount of creatinine in the blood.
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVProgressive hereditary glomerulonephritis without deafness
Follow this link to review classifications for Progressive hereditary glomerulonephritis without deafness in Orphanet.

Professional guidelines

PubMed

Deciphering the pathogenesis of the COL4-related hematuric nephritis: A genotype/phenotype study.
Uliana V, Sebastio P, Riva M, Carli D, Ruberto C, Bianchi L, Graziano C, Capelli I, Faletra F, Pillon R, Mattina T, Sensi A, Bonatti F, Percesepe A
Mol Genet Genomic Med 2021 Feb;9(2):e1576. Epub 2020 Dec 24 doi: 10.1002/mgg3.1576. PMID: 33369211Free 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
X-linked Alport syndrome: pathogenic variant features and further auditory genotype-phenotype correlations in males.
Zhang X, Zhang Y, Zhang Y, Gu H, Chen Z, Ren L, Lu X, Chen L, Wang F, Liu Y, Ding J
Orphanet J Rare Dis 2018 Dec 22;13(1):229. doi: 10.1186/s13023-018-0974-4. PMID: 30577881Free PMC Article

Recent clinical studies

Etiology

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
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
Women and Alport syndrome.
Rheault MN
Pediatr Nephrol 2012 Jan;27(1):41-6. Epub 2011 Mar 5 doi: 10.1007/s00467-011-1836-7. PMID: 21380623Free PMC Article
CKD in MYH9-related disorders.
Singh N, Nainani N, Arora P, Venuto RC
Am J Kidney Dis 2009 Oct;54(4):732-40. Epub 2009 Sep 2 doi: 10.1053/j.ajkd.2009.06.023. PMID: 19726116
Familial hematuria due to type IV collagen mutations: Alport syndrome and thin basement membrane nephropathy.
Kashtan CE
Curr Opin Pediatr 2004 Apr;16(2):177-81. doi: 10.1097/00008480-200404000-00011. PMID: 15021198

Diagnosis

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
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
Women and Alport syndrome.
Rheault MN
Pediatr Nephrol 2012 Jan;27(1):41-6. Epub 2011 Mar 5 doi: 10.1007/s00467-011-1836-7. PMID: 21380623Free PMC Article
CKD in MYH9-related disorders.
Singh N, Nainani N, Arora P, Venuto RC
Am J Kidney Dis 2009 Oct;54(4):732-40. Epub 2009 Sep 2 doi: 10.1053/j.ajkd.2009.06.023. PMID: 19726116
Alport's syndrome.
Flinter F
J Med Genet 1997 Apr;34(4):326-30. doi: 10.1136/jmg.34.4.326. PMID: 9138159Free PMC Article

Therapy

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
The 2014International Workshop on Alport Syndrome.
Miner JH, Baigent C, Flinter F, Gross O, Judge P, Kashtan CE, Lagas S, Savige J, Blatt D, Ding J, Gale DP, Midgley JP, Povey S, Prunotto M, Renault D, Skelding J, Turner AN, Gear S
Kidney Int 2014 Oct;86(4):679-84. Epub 2014 Jul 2 doi: 10.1038/ki.2014.229. PMID: 24988067Free PMC Article
Identification of a new mutation in the alpha4(IV) collagen gene in a family with autosomal dominant Alport syndrome and hypercholesterolaemia.
Ciccarese M, Casu D, Ki Wong F, Faedda R, Arvidsson S, Tonolo G, Luthman H, Satta A
Nephrol Dial Transplant 2001 Oct;16(10):2008-12. doi: 10.1093/ndt/16.10.2008. PMID: 11572889
Different mutations in the COL4A5 collagen gene in two patients with different features of Alport syndrome.
Smeets HJ, Melenhorst JJ, Lemmink HH, Schröder CH, Nelen MR, Zhou J, Hostikka SL, Tryggvason K, Ropers HH, Jansweijer MC
Kidney Int 1992 Jul;42(1):83-8. doi: 10.1038/ki.1992.264. PMID: 1635357
The pathogenesis of Alport syndrome involves type IV collagen molecules containing the alpha 3(IV) chain: evidence from anti-GBM nephritis after renal transplantation.
Hudson BG, Kalluri R, Gunwar S, Weber M, Ballester F, Hudson JK, Noelken ME, Sarras M, Richardson WR, Saus J
Kidney Int 1992 Jul;42(1):179-87. doi: 10.1038/ki.1992.276. PMID: 1635348

Prognosis

Genetic and molecular dynamics analysis of two variants of the COL4A5 gene causing Alport syndrome.
Liang L, Wu H, Cai Z, Zhao J
BMC Med Genomics 2023 Aug 18;16(1):192. doi: 10.1186/s12920-023-01623-7. PMID: 37596645Free PMC Article
Deciphering the pathogenesis of the COL4-related hematuric nephritis: A genotype/phenotype study.
Uliana V, Sebastio P, Riva M, Carli D, Ruberto C, Bianchi L, Graziano C, Capelli I, Faletra F, Pillon R, Mattina T, Sensi A, Bonatti F, Percesepe A
Mol Genet Genomic Med 2021 Feb;9(2):e1576. Epub 2020 Dec 24 doi: 10.1002/mgg3.1576. PMID: 33369211Free 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
Alport Syndrome in Women and Girls.
Savige J, Colville D, Rheault M, Gear S, Lennon R, Lagas S, Finlay M, Flinter F
Clin J Am Soc Nephrol 2016 Sep 7;11(9):1713-1720. Epub 2016 Jun 10 doi: 10.2215/CJN.00580116. PMID: 27287265Free PMC Article
Alport's syndrome: case report and review of ocular manifestations.
Chance JK, Stanley JA
Ann Ophthalmol 1977 Dec;9(12):1527-30. PMID: 606033

Clinical prediction guides

Genetic and molecular dynamics analysis of two variants of the COL4A5 gene causing Alport syndrome.
Liang L, Wu H, Cai Z, Zhao J
BMC Med Genomics 2023 Aug 18;16(1):192. doi: 10.1186/s12920-023-01623-7. PMID: 37596645Free 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
Autosomal dominant progressive nephropathy with deafness: linkage to a new locus on chromosome 11q24.
Prakash S, Chung KW, Sinha S, Barmada M, Ellis D, Ferrell RE, Finegold DN, Randhawa PS, Dinda A, Vats A
J Am Soc Nephrol 2003 Jul;14(7):1794-803. doi: 10.1097/01.asn.0000071513.73427.97. PMID: 12819239
Alport syndrome with diffuse leiomyomatosis.
Anker MC, Arnemann J, Neumann K, Ahrens P, Schmidt H, König R
Am J Med Genet A 2003 Jun 15;119A(3):381-5. doi: 10.1002/ajmg.a.20019. PMID: 12784310
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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