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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.
 
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.
Microscopic hematuria
MedGen UID:
65997
Concept ID:
C0239937
Finding
Microscopic hematuria detected by dipstick or microscopic examination of the urine.
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.
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.
Hypertensive disorder
MedGen UID:
6969
Concept ID:
C0020538
Disease or Syndrome
The presence of chronic increased pressure in the systemic arterial system.
Nephritis
MedGen UID:
14328
Concept ID:
C0027697
Disease or Syndrome
The presence of inflammation affecting the kidney.
Elevated circulating creatinine concentration
MedGen UID:
148579
Concept ID:
C0700225
Finding
An increased amount of creatinine in the blood.

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

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
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
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

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
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
Kruegel J, Rubel D, Gross O
Nat Rev Nephrol 2013 Mar;9(3):170-8. Epub 2012 Nov 20 doi: 10.1038/nrneph.2012.259. PMID: 23165304
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
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

Diagnosis

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
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
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
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
Flinter F
J Med Genet 1997 Apr;34(4):326-30. doi: 10.1136/jmg.34.4.326. PMID: 9138159Free PMC Article

Therapy

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
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
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
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
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

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
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
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
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
Pochet JM, Bobrie G, Landais P, Goldfarb B, Grünfeld JP
Nephrol Dial Transplant 1989;4(12):1016-21. PMID: 2517321

Clinical prediction guides

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
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
Hertz JM
Dan Med Bull 2009 Aug;56(3):105-52. PMID: 19728970
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
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

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