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Renal hypodysplasia/aplasia 4(RHDA4)

MedGen UID:
1808595
•Concept ID:
C5676993
•
Disease or Syndrome
Synonyms: RENAL HYPODYSPLASIA/APLASIA 4; RHDA4
 
Gene (location): GFRA1 (10q25.3)
 
Monarch Initiative: MONDO:0030822
OMIM®: 619887

Definition

Renal hypodysplasia/aplasia-4 (RHDA4) is characterized by bilateral renal agenesis, with severely reduced to absent amniotic fluid during pregnancy. Patients exhibit the Potter sequence, including flattened nose, ear anomalies, and receding chin, as well as limb contractures and joint dislocations in some patients (Arora et al., 2021; Al-Shamsi et al., 2022). For a general phenotypic description and discussion of genetic heterogeneity of renal hypoplasia/dysplasia, see RHDA1 (191830). [from OMIM]

Clinical features

From HPO
Bilateral renal agenesis
MedGen UID:
296299
•Concept ID:
C1609433
•
Disease or Syndrome
A bilateral form of agenesis of the kidney.
See: Feature record | Search on this feature
Pulmonary hypoplasia
MedGen UID:
78574
•Concept ID:
C0265783
•
Congenital Abnormality
A congenital abnormality in which the lung parenchyma is not fully developed. It may be associated with other congenital abnormalities.
See: Feature record | Search on this feature
Respiratory failure
MedGen UID:
257837
•Concept ID:
C1145670
•
Disease or Syndrome
A severe form of respiratory insufficiency characterized by inadequate gas exchange such that the levels of oxygen or carbon dioxide cannot be maintained within normal limits.
See: Feature record | Search on this feature
Potter facies
MedGen UID:
78614
•Concept ID:
C0266619
•
Congenital Abnormality
A facial appearance characteristic of a fetus or neonate due to oligohydramnios experienced in the womb, comprising ocular hypertelorism, low-set ears, receding chin, and flattening of the nose.
See: Feature record | Search on this feature
Anhydramnios
MedGen UID:
676568
•Concept ID:
C0730379
•
Disease or Syndrome
A complete or near-complete lack of amniotic fluid surrounding a fetus. This finding can be observed sonographically in the third trimesters if the deepest pocket of amniotic fluid is less than or equal to 2 cm.
See: Feature record | Search on this feature
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Professional guidelines

PubMed

Diagnosis, management, and prognosis of HNF1B nephropathy in adulthood.
Faguer S, Decramer S, Chassaing N, Bellanné-Chantelot C, Calvas P, Beaufils S, Bessenay L, Lengelé JP, Dahan K, Ronco P, Devuyst O, Chauveau D
Kidney Int 2011 Oct;80(7):768-76. Epub 2011 Jul 20 doi: 10.1038/ki.2011.225. PMID: 21775974

Recent clinical studies

Etiology

Asian guidelines for urinary tract infection in children.
Yang SS, Tsai JD, Kanematsu A, Han CH
J Infect Chemother 2021 Nov;27(11):1543-1554. Epub 2021 Aug 11 doi: 10.1016/j.jiac.2021.07.014. PMID: 34391623
ACE serum level and I/D gene polymorphism in children with obstructive uropathies and other congenital anomalies of the kidney and urinary tract.
Kostadinova ES, Miteva LD, Stanilova SA
Nephrology (Carlton) 2017 Aug;22(8):609-616. doi: 10.1111/nep.12824. PMID: 27206329
Histomorphology of renal dysplasia--an autopsy study.
Kakkar N, Menon S, Radotra BD
Fetal Pediatr Pathol 2006 Mar-Apr;25(2):73-86. doi: 10.1080/15513810600788764. PMID: 16908457
Mutations in Uroplakin IIIA are a rare cause of renal hypodysplasia in humans.
Schönfelder EM, Knüppel T, Tasic V, Miljkovic P, Konrad M, Wühl E, Antignac C, Bakkaloglu A, Schaefer F, Weber S; ESCAPE Trial Group
Am J Kidney Dis 2006 Jun;47(6):1004-12. doi: 10.1053/j.ajkd.2006.02.177. PMID: 16731295
Epidemiology of chronic renal failure in children: data from the ItalKid project.
Ardissino G, Daccò V, Testa S, Bonaudo R, Claris-Appiani A, Taioli E, Marra G, Edefonti A, Sereni F; ItalKid Project
Pediatrics 2003 Apr;111(4 Pt 1):e382-7. doi: 10.1542/peds.111.4.e382. PMID: 12671156

Diagnosis

Asian guidelines for urinary tract infection in children.
Yang SS, Tsai JD, Kanematsu A, Han CH
J Infect Chemother 2021 Nov;27(11):1543-1554. Epub 2021 Aug 11 doi: 10.1016/j.jiac.2021.07.014. PMID: 34391623
Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations.
Sanna-Cherchi S, Khan K, Westland R, Krithivasan P, Fievet L, Rasouly HM, Ionita-Laza I, Capone VP, Fasel DA, Kiryluk K, Kamalakaran S, Bodria M, Otto EA, Sampson MG, Gillies CE, Vega-Warner V, Vukojevic K, Pediaditakis I, Makar GS, Mitrotti A, Verbitsky M, Martino J, Liu Q, Na YJ, Goj V, Ardissino G, Gigante M, Gesualdo L, Janezcko M, Zaniew M, Mendelsohn CL, Shril S, Hildebrandt F, van Wijk JAE, Arapovic A, Saraga M, Allegri L, Izzi C, Scolari F, Tasic V, Ghiggeri GM, Latos-Bielenska A, Materna-Kiryluk A, Mane S, Goldstein DB, Lifton RP, Katsanis N, Davis EE, Gharavi AG
Am J Hum Genet 2017 Nov 2;101(5):789-802. doi: 10.1016/j.ajhg.2017.09.018. PMID: 29100090Free PMC Article
Genetics of Congenital Anomalies of the Kidney and Urinary Tract: The Current State of Play.
Capone VP, Morello W, Taroni F, Montini G
Int J Mol Sci 2017 Apr 11;18(4) doi: 10.3390/ijms18040796. PMID: 28398236Free PMC Article
Diagnosis, management, and prognosis of HNF1B nephropathy in adulthood.
Faguer S, Decramer S, Chassaing N, Bellanné-Chantelot C, Calvas P, Beaufils S, Bessenay L, Lengelé JP, Dahan K, Ronco P, Devuyst O, Chauveau D
Kidney Int 2011 Oct;80(7):768-76. Epub 2011 Jul 20 doi: 10.1038/ki.2011.225. PMID: 21775974
PAX2 mutations in fetal renal hypodysplasia.
Martinovic-Bouriel J, Benachi A, Bonnière M, Brahimi N, Esculpavit C, Morichon N, Vekemans M, Antignac C, Salomon R, Encha-Razavi F, Attié-Bitach T, Gubler MC
Am J Med Genet A 2010 Apr;152A(4):830-5. doi: 10.1002/ajmg.a.33133. PMID: 20358591

Therapy

Impact of ACE I/D gene polymorphism on congenital renal malformations.
Hohenfellner K, Wingen AM, Nauroth O, Wühl E, Mehls O, Schaefer F
Pediatr Nephrol 2001 Apr;16(4):356-61. doi: 10.1007/s004670100567. PMID: 11354781

Prognosis

Asian guidelines for urinary tract infection in children.
Yang SS, Tsai JD, Kanematsu A, Han CH
J Infect Chemother 2021 Nov;27(11):1543-1554. Epub 2021 Aug 11 doi: 10.1016/j.jiac.2021.07.014. PMID: 34391623
The Frequency of Familial Congenital Anomalies of the Kidney and Urinary Tract: Should We Screen Asymptomatic First-Degree Relatives Using Urinary Tract Ultrasonography?
Suman Gök E, Ayvacı A, Ağbaş A, Adaletli İ, Canpolat N, Sever L, Çalışkan S
Nephron 2020;144(4):170-175. Epub 2020 Jan 7 doi: 10.1159/000505402. PMID: 31910412
Genetics of Congenital Anomalies of the Kidney and Urinary Tract: The Current State of Play.
Capone VP, Morello W, Taroni F, Montini G
Int J Mol Sci 2017 Apr 11;18(4) doi: 10.3390/ijms18040796. PMID: 28398236Free PMC Article
Diagnosis, management, and prognosis of HNF1B nephropathy in adulthood.
Faguer S, Decramer S, Chassaing N, Bellanné-Chantelot C, Calvas P, Beaufils S, Bessenay L, Lengelé JP, Dahan K, Ronco P, Devuyst O, Chauveau D
Kidney Int 2011 Oct;80(7):768-76. Epub 2011 Jul 20 doi: 10.1038/ki.2011.225. PMID: 21775974
Epidemiology of chronic renal failure in children: data from the ItalKid project.
Ardissino G, Daccò V, Testa S, Bonaudo R, Claris-Appiani A, Taioli E, Marra G, Edefonti A, Sereni F; ItalKid Project
Pediatrics 2003 Apr;111(4 Pt 1):e382-7. doi: 10.1542/peds.111.4.e382. PMID: 12671156

Clinical prediction guides

PAX2 and CAKUT Phenotypes: Report on Two New Variants and a Review of Mutations from the Leiden Open Variation Database.
Negrisolo S, Benetti E
Int J Mol Sci 2023 Feb 19;24(4) doi: 10.3390/ijms24044165. PMID: 36835576Free PMC Article
Screening of renal anomalies in first-degree relatives of children diagnosed with non-syndromic congenital anomalies of kidney and urinary tract.
Viswanathan A, Dawman L, Tiewsoh K, Saxena AK, Dutta S, Suri D
Clin Exp Nephrol 2021 Feb;25(2):184-190. Epub 2020 Oct 6 doi: 10.1007/s10157-020-01977-7. PMID: 33025232
Rare heterozygous GDF6 variants in patients with renal anomalies.
Martens H, Hennies I, Getwan M, Christians A, Weiss AC, Brand F, Gjerstad AC, Christians A, Gucev Z, Geffers R, Seeman T, Kispert A, Tasic V, Bjerre A, Lienkamp SS, Haffner D, Weber RG
Eur J Hum Genet 2020 Dec;28(12):1681-1693. Epub 2020 Jul 31 doi: 10.1038/s41431-020-0678-9. PMID: 32737436Free PMC Article
Renin-angiotensin system in ureteric bud branching morphogenesis: implications for kidney disease.
Yosypiv IV
Pediatr Nephrol 2014 Apr;29(4):609-20. Epub 2013 Sep 7 doi: 10.1007/s00467-013-2616-3. PMID: 24061643
Mutations in Uroplakin IIIA are a rare cause of renal hypodysplasia in humans.
Schönfelder EM, Knüppel T, Tasic V, Miljkovic P, Konrad M, Wühl E, Antignac C, Bakkaloglu A, Schaefer F, Weber S; ESCAPE Trial Group
Am J Kidney Dis 2006 Jun;47(6):1004-12. doi: 10.1053/j.ajkd.2006.02.177. PMID: 16731295

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