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Renal hypodysplasia/aplasia 1(RHDA1)

MedGen UID:
301437
Concept ID:
C1619700
Congenital Abnormality
Synonyms: HEREDITARY RENAL APLASIA; RENAL APLASIA; RHDA1; Urogenital adysplasia, hereditary
 
Gene (location): ITGA8 (10p13)
 
Monarch Initiative: MONDO:0024519
OMIM®: 191830

Definition

Renal hypodysplasia/aplasia belongs to a group of perinatally lethal renal diseases, including bilateral renal aplasia, unilateral renal agenesis with contralateral dysplasia (URA/RD), and severe obstructive uropathy. Renal aplasia falls at the most severe end of the spectrum of congenital anomalies of the kidney and urinary tract (CAKUT; 610805), and usually results in death in utero or in the perinatal period. Families have been documented in which bilateral renal agenesis or aplasia coexists with unilateral renal aplasia, renal dysplasia, or renal aplasia with renal dysplasia, suggesting that these conditions may belong to a pathogenic continuum or phenotypic spectrum (summary by Joss et al., 2003; Humbert et al., 2014). Genetic Heterogeneity of Renal Hypodysplasia/Aplasia See also RHDA2 (615721), caused by mutation in the FGF20 gene (605558) on chromosome 8p22; RHDA3 (617805), caused by mutation in the GREB1L gene (617782) on chromosome 18q11; and RHDA4 (619887), caused by mutation in the GFRA1 gene (601496) on chromosome 10q25. [from OMIM]

Clinical features

From HPO
Proteinuria
MedGen UID:
10976
Concept ID:
C0033687
Finding
Increased levels of protein in the urine.
Primary amenorrhea
MedGen UID:
115918
Concept ID:
C0232939
Disease or Syndrome
Abnormally late or absent menarche in a female with normal secondary sexual characteristics.
Bicornuate uterus
MedGen UID:
78599
Concept ID:
C0266387
Congenital Abnormality
The presence of a bicornuate uterus.
Vaginal atresia
MedGen UID:
232948
Concept ID:
C1321884
Congenital Abnormality
Congenital occlusion of the vagina or adhesion of the walls of the vagina causing occlusion.
Bilateral renal agenesis
MedGen UID:
296299
Concept ID:
C1609433
Disease or Syndrome
A bilateral form of agenesis of the kidney.
Renal dysplasia
MedGen UID:
760690
Concept ID:
C3536714
Congenital Abnormality
The presence of developmental dysplasia of the kidney.
Clubfoot
MedGen UID:
3130
Concept ID:
C0009081
Congenital Abnormality
Clubfoot is a congenital limb deformity defined as fixation of the foot in cavus, adductus, varus, and equinus (i.e., inclined inwards, axially rotated outwards, and pointing downwards) with concomitant soft tissue abnormalities (Cardy et al., 2007). Clubfoot may occur in isolation or as part of a syndrome (e.g., diastrophic dysplasia, 222600). Clubfoot has been reported with deficiency of long bones and mirror-image polydactyly (Gurnett et al., 2008; Klopocki et al., 2012).
Hypertensive disorder
MedGen UID:
6969
Concept ID:
C0020538
Disease or Syndrome
The presence of chronic increased pressure in the systemic arterial system.
Low-set ears
MedGen UID:
65980
Concept ID:
C0239234
Congenital Abnormality
Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.
Retrognathia
MedGen UID:
19766
Concept ID:
C0035353
Congenital Abnormality
An abnormality in which the mandible is mislocalised posteriorly.
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.
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.
Oligohydramnios
MedGen UID:
86974
Concept ID:
C0079924
Pathologic Function
Diminished amniotic fluid volume in pregnancy.
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.
Hypertelorism
MedGen UID:
9373
Concept ID:
C0020534
Finding
Although hypertelorism means an excessive distance between any paired organs (e.g., the nipples), the use of the word has come to be confined to ocular hypertelorism. Hypertelorism occurs as an isolated feature and is also a feature of many syndromes, e.g., Opitz G syndrome (see 300000), Greig cephalopolysyndactyly (175700), and Noonan syndrome (163950) (summary by Cohen et al., 1995).

Professional guidelines

PubMed

Yu H, Fischer G, Visser R, Cassano-Bailey A
J Vasc Interv Radiol 2024 Apr;35(4):621-623. Epub 2023 Dec 25 doi: 10.1016/j.jvir.2023.11.025. PMID: 38151155
Acién P, Acién M
Hum Reprod Update 2016 Jan-Feb;22(1):48-69. Epub 2015 Nov 3 doi: 10.1093/humupd/dmv048. PMID: 26537987
Yuruk E, Binbay M, Ozgor F, Sekerel L, Berberoglu Y, Muslumanoglu AY
J Endourol 2015 Apr;29(4):463-7. Epub 2014 Nov 7 doi: 10.1089/end.2014.0613. PMID: 25268731

Recent clinical studies

Etiology

Raynal G, Malval B, Panthier F, Roustan FR, Traxer O, Meria P, Almeras C; lithiasis committee of the French Association of Urology (CLAFU)
Prog Urol 2023 Nov;33(14):843-853. doi: 10.1016/j.purol.2023.08.016. PMID: 37918983
De Becker B, Borghi C, Burnier M, van de Borne P
J Hypertens 2019 May;37(5):878-883. doi: 10.1097/HJH.0000000000001980. PMID: 30620339
Bahler CD, Sundaram CP
J Endourol 2016 May;30 Suppl 1:S37-41. Epub 2016 Mar 3 doi: 10.1089/end.2016.0055. PMID: 26864480
Spiro JE, Konrad M, Rieger-Fackeldey E, Masjosthusmann K, Amler S, Klockenbusch W, Schmitz R
Arch Gynecol Obstet 2015 Aug;292(2):327-36. Epub 2015 Feb 13 doi: 10.1007/s00404-015-3648-7. PMID: 25676656
Murugasu B, Cole BR, Hawkins EP, Blanton SH, Conley SB, Portman RJ
Am J Kidney Dis 1991 Oct;18(4):490-4. doi: 10.1016/s0272-6386(12)80118-1. PMID: 1928068

Diagnosis

Reyna-Villasmil E, Briceño-Pérez C, Briceño-Sanabria JC
Am J Perinatol 2024 Apr;41(5):531-538. Epub 2022 Mar 9 doi: 10.1055/s-0042-1744259. PMID: 35263768
De Becker B, Borghi C, Burnier M, van de Borne P
J Hypertens 2019 May;37(5):878-883. doi: 10.1097/HJH.0000000000001980. PMID: 30620339
Bahler CD, Sundaram CP
J Endourol 2016 May;30 Suppl 1:S37-41. Epub 2016 Mar 3 doi: 10.1089/end.2016.0055. PMID: 26864480
Santos XM, Dietrich JE
J Pediatr Adolesc Gynecol 2016 Feb;29(1):7-10. Epub 2014 Sep 28 doi: 10.1016/j.jpag.2014.09.008. PMID: 26165909
Spiro JE, Konrad M, Rieger-Fackeldey E, Masjosthusmann K, Amler S, Klockenbusch W, Schmitz R
Arch Gynecol Obstet 2015 Aug;292(2):327-36. Epub 2015 Feb 13 doi: 10.1007/s00404-015-3648-7. PMID: 25676656

Therapy

De Becker B, Borghi C, Burnier M, van de Borne P
J Hypertens 2019 May;37(5):878-883. doi: 10.1097/HJH.0000000000001980. PMID: 30620339
Bahler CD, Sundaram CP
J Endourol 2016 May;30 Suppl 1:S37-41. Epub 2016 Mar 3 doi: 10.1089/end.2016.0055. PMID: 26864480
Sunitha K, Hemshekhar M, Thushara RM, Santhosh MS, Sundaram MS, Kemparaju K, Girish KS
Toxicon 2015 May;98:89-97. Epub 2015 Feb 26 doi: 10.1016/j.toxicon.2015.02.014. PMID: 25727382
Spiro JE, Konrad M, Rieger-Fackeldey E, Masjosthusmann K, Amler S, Klockenbusch W, Schmitz R
Arch Gynecol Obstet 2015 Aug;292(2):327-36. Epub 2015 Feb 13 doi: 10.1007/s00404-015-3648-7. PMID: 25676656
Lankadeva YR, Singh RR, Tare M, Moritz KM, Denton KM
Am J Physiol Renal Physiol 2014 Apr 15;306(8):F791-800. Epub 2014 Feb 5 doi: 10.1152/ajprenal.00666.2013. PMID: 24500691

Prognosis

Reyna-Villasmil E, Briceño-Pérez C, Briceño-Sanabria JC
Am J Perinatol 2024 Apr;41(5):531-538. Epub 2022 Mar 9 doi: 10.1055/s-0042-1744259. PMID: 35263768
Plutecki D, Kozioł T, Bonczar M, Ostrowski P, Skorupa A, Matejuk S, Walocha J, Pękala J, Musiał A, Pasternak A, Koziej M
Nephrology (Carlton) 2023 Oct;28(10):525-533. Epub 2023 May 30 doi: 10.1111/nep.14190. PMID: 37254584
Bahler CD, Sundaram CP
J Endourol 2016 May;30 Suppl 1:S37-41. Epub 2016 Mar 3 doi: 10.1089/end.2016.0055. PMID: 26864480
Spiro JE, Konrad M, Rieger-Fackeldey E, Masjosthusmann K, Amler S, Klockenbusch W, Schmitz R
Arch Gynecol Obstet 2015 Aug;292(2):327-36. Epub 2015 Feb 13 doi: 10.1007/s00404-015-3648-7. PMID: 25676656
Daoub A, Drake TM
BMJ Case Rep 2014 Dec 2;2014 doi: 10.1136/bcr-2014-208172. PMID: 25465462Free PMC Article

Clinical prediction guides

Plutecki D, Kozioł T, Bonczar M, Ostrowski P, Skorupa A, Matejuk S, Walocha J, Pękala J, Musiał A, Pasternak A, Koziej M
Nephrology (Carlton) 2023 Oct;28(10):525-533. Epub 2023 May 30 doi: 10.1111/nep.14190. PMID: 37254584
Yulia A, Napolitano R, Aiman A, Desai D, Johal N, Whitten M, Ushakov F, Pandya PP, Winyard PJD
Ultrasound Obstet Gynecol 2021 Jun;57(6):953-958. doi: 10.1002/uog.22121. PMID: 32530118
Belge H, Dahan K, Cambier JF, Benoit V, Morelle J, Bloch J, Vanhille P, Pirson Y, Demoulin N
Nephrol Dial Transplant 2017 May 1;32(5):830-837. doi: 10.1093/ndt/gfw271. PMID: 27387476
Bahler CD, Sundaram CP
J Endourol 2016 May;30 Suppl 1:S37-41. Epub 2016 Mar 3 doi: 10.1089/end.2016.0055. PMID: 26864480
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

Recent systematic reviews

Chen HA, Grimshaw AA, Taylor-Giorlando M, Vijayakumar P, Li D, Margetts M, Pelosi E, Vash-Margita A
J Ovarian Res 2023 Jan 16;16(1):13. doi: 10.1186/s13048-022-01090-1. PMID: 36642704Free PMC Article
Cai H, Qing X, Niringiyumukiza JD, Zhan X, Mo D, Zhou Y, Shang X
Genet Med 2019 Apr;21(4):826-836. Epub 2018 Sep 14 doi: 10.1038/s41436-018-0262-7. PMID: 30214069Free PMC Article
Acién P, Acién M
Hum Reprod Update 2016 Jan-Feb;22(1):48-69. Epub 2015 Nov 3 doi: 10.1093/humupd/dmv048. PMID: 26537987

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