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Oligomeganephronia

MedGen UID:
609100
•Concept ID:
C0431694
•
Disease or Syndrome
Synonyms: oligomeganephronia; Oligomeganephronic hypoplasia; Oligomeganephronic hypoplasia of kidney; Oligomeganephronic renal hypoplasia
SNOMED CT: Oligomeganephronic hypoplasia (18417009); Oligomeganephronia (18417009); Oligomeganephronic hypoplasia of kidney (18417009)
Modes of inheritance:
Non-Mendelian inheritance
MedGen UID:
109109
•Concept ID:
C0600599
•
Genetic Function
Source: Orphanet
A mode of inheritance that depends on genetic determinants in more than one gene.
Non-Mendelian inheritance (Orphanet)
 
Monarch Initiative: MONDO:0016407
Orphanet: ORPHA2260

Definition

A rare kidney malformation characterized by a reduction of 80% in nephron number and a marked hypertrophy of the glomeruli and tubules. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVOligomeganephronia

Professional guidelines

PubMed

Phenotype-Genotype Correlations in Three Different Cases of Adult-Onset Genetic Focal Segmental Glomerulosclerosis.
Kalmár T, Turkevi-Nagy S, Bitó L, Kaiser L, Maróti Z, Jakab D, Letoha A, Légrády P, Iványi B
Int J Mol Sci 2023 Dec 14;24(24) doi: 10.3390/ijms242417489. PMID: 38139322Free PMC Article

Recent clinical studies

Etiology

Pathological and clinical characteristics of late-onset oligomeganephronia based on a histomorphometric study.
Ren YL, Li Y, Gao J, Zhou XJ, Yang L, Wang SX
BMC Nephrol 2023 Mar 15;24(1):54. doi: 10.1186/s12882-023-03096-3. PMID: 36922764Free PMC Article
Clinical and pathological investigation of oligomeganephronia.
Kitakado H, Horinouchi T, Masuda C, Kondo A, Nagai S, Aoto Y, Sakakibara N, Ninchoji T, Yoshikawa N, Nozu K
Pediatr Nephrol 2023 Mar;38(3):757-762. Epub 2022 Jul 21 doi: 10.1007/s00467-022-05687-y. PMID: 35861872
Glomerular galactose-deficient IgA1 expression analysis in pediatric patients with glomerular diseases.
Ishiko S, Horinouchi T, Fujimaru R, Shima Y, Kaito H, Tanaka R, Ishimori S, Kondo A, Nagai S, Aoto Y, Sakakibara N, Nagano C, Yamamura T, Yoshimura M, Nakanishi K, Fujimura J, Kamiyoshi N, Nagase H, Yoshikawa N, Iijima K, Nozu K
Sci Rep 2020 Aug 20;10(1):14026. doi: 10.1038/s41598-020-71101-y. PMID: 32820208Free PMC Article
Renal Hypoplasia, From Grossly Insufficient to Not Quite Enough: Consideration for Expanded Concepts Based Upon the Author's Perspective With Historical Review.
Bonsib SM
Adv Anat Pathol 2020 Sep;27(5):311-330. doi: 10.1097/PAP.0000000000000269. PMID: 32520748Free PMC Article
Renal outcome of children exposed to cyclosporine in utero.
Cochat P, Decramer S, Robert-Gnansia E, Dubourg L, Audra P
Transplant Proc 2004 Mar;36(2 Suppl):208S-210S. doi: 10.1016/j.transproceed.2004.01.012. PMID: 15041338

Diagnosis

Phenotype-Genotype Correlations in Three Different Cases of Adult-Onset Genetic Focal Segmental Glomerulosclerosis.
Kalmár T, Turkevi-Nagy S, Bitó L, Kaiser L, Maróti Z, Jakab D, Letoha A, Légrády P, Iványi B
Int J Mol Sci 2023 Dec 14;24(24) doi: 10.3390/ijms242417489. PMID: 38139322Free PMC Article
A novel pathogenic variant c.262delA in PBX1 causing oligomeganephronia identified using whole-exome sequencing and a literature review.
Hu J, Yang H, Wang X, Ding J, Liao P, Zhu G, Qi C
Am J Med Genet A 2023 Dec;191(12):2850-2855. Epub 2023 Aug 12 doi: 10.1002/ajmg.a.63364. PMID: 37571997
Clinical and pathological investigation of oligomeganephronia.
Kitakado H, Horinouchi T, Masuda C, Kondo A, Nagai S, Aoto Y, Sakakibara N, Ninchoji T, Yoshikawa N, Nozu K
Pediatr Nephrol 2023 Mar;38(3):757-762. Epub 2022 Jul 21 doi: 10.1007/s00467-022-05687-y. PMID: 35861872
A case of late-onset oligomeganephronia.
Alves RJ, Oppermann K, Schein LE, Pêgas KL
J Bras Nefrol 2012 Oct-Dec;34(4):392-4. doi: 10.5935/0101-2800.20120030. PMID: 23318829
Renal coloboma syndrome.
Schimmenti LA
Eur J Hum Genet 2011 Dec;19(12):1207-12. Epub 2011 Jun 8 doi: 10.1038/ejhg.2011.102. PMID: 21654726Free PMC Article

Therapy

Oligonephronia and Wolf-Hirschhorn syndrome: A further observation.
Gatto A, Ferrara P, Leoni C, Onesimo R, Zollino M, Emma F, Zampino G
Am J Med Genet A 2018 Feb;176(2):409-414. Epub 2017 Nov 28 doi: 10.1002/ajmg.a.38554. PMID: 29193639
Renal outcome of children exposed to cyclosporine in utero.
Cochat P, Decramer S, Robert-Gnansia E, Dubourg L, Audra P
Transplant Proc 2004 Mar;36(2 Suppl):208S-210S. doi: 10.1016/j.transproceed.2004.01.012. PMID: 15041338
Muromonab-CD3-induced neurotoxicity: report of two siblings, one of whom had subsequent cyclosporin-induced neurotoxicity.
Thaisetthawatkul P, Weinstock A, Kerr SL, Cohen ME
J Child Neurol 2001 Nov;16(11):825-31. doi: 10.1177/08830738010160110801. PMID: 11732768

Prognosis

A novel pathogenic variant c.262delA in PBX1 causing oligomeganephronia identified using whole-exome sequencing and a literature review.
Hu J, Yang H, Wang X, Ding J, Liao P, Zhu G, Qi C
Am J Med Genet A 2023 Dec;191(12):2850-2855. Epub 2023 Aug 12 doi: 10.1002/ajmg.a.63364. PMID: 37571997
Renal Hypoplasia, From Grossly Insufficient to Not Quite Enough: Consideration for Expanded Concepts Based Upon the Author's Perspective With Historical Review.
Bonsib SM
Adv Anat Pathol 2020 Sep;27(5):311-330. doi: 10.1097/PAP.0000000000000269. PMID: 32520748Free PMC Article
Glomeruli and blood pressure. Less of one, more the other?
Brenner BM, Garcia DL, Anderson S
Am J Hypertens 1988 Oct;1(4 Pt 1):335-47. doi: 10.1093/ajh/1.4.335. PMID: 3063284
Familial occurrence of oligomeganephronia.
Kusuyama Y, Tsukino R, Oomori H, Kuribayashi K, Katayama H, Koike M, Saito K
Acta Pathol Jpn 1985 Mar;35(2):449-57. doi: 10.1111/j.1440-1827.1985.tb00587.x. PMID: 4024943

Clinical prediction guides

A novel pathogenic variant c.262delA in PBX1 causing oligomeganephronia identified using whole-exome sequencing and a literature review.
Hu J, Yang H, Wang X, Ding J, Liao P, Zhu G, Qi C
Am J Med Genet A 2023 Dec;191(12):2850-2855. Epub 2023 Aug 12 doi: 10.1002/ajmg.a.63364. PMID: 37571997
Pathological and clinical characteristics of late-onset oligomeganephronia based on a histomorphometric study.
Ren YL, Li Y, Gao J, Zhou XJ, Yang L, Wang SX
BMC Nephrol 2023 Mar 15;24(1):54. doi: 10.1186/s12882-023-03096-3. PMID: 36922764Free PMC Article
Clinical and pathological investigation of oligomeganephronia.
Kitakado H, Horinouchi T, Masuda C, Kondo A, Nagai S, Aoto Y, Sakakibara N, Ninchoji T, Yoshikawa N, Nozu K
Pediatr Nephrol 2023 Mar;38(3):757-762. Epub 2022 Jul 21 doi: 10.1007/s00467-022-05687-y. PMID: 35861872
Oligonephronia and Wolf-Hirschhorn syndrome: A further observation.
Gatto A, Ferrara P, Leoni C, Onesimo R, Zollino M, Emma F, Zampino G
Am J Med Genet A 2018 Feb;176(2):409-414. Epub 2017 Nov 28 doi: 10.1002/ajmg.a.38554. PMID: 29193639
Glomeruli and blood pressure. Less of one, more the other?
Brenner BM, Garcia DL, Anderson S
Am J Hypertens 1988 Oct;1(4 Pt 1):335-47. doi: 10.1093/ajh/1.4.335. PMID: 3063284

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