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Renal tubular dysgenesis(RTD)

MedGen UID:
82738
Concept ID:
C0266313
Disease or Syndrome
Synonyms: Primitive renal tubule syndrome; Renotubular dysgenesis
SNOMED CT: Primitive renal tubule syndrome (702397002); Allanson Pantzar McLeod syndrome (702397002); Renal tubular dysgenesis (702397002)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
Related genes: REN, ACE, AGTR1, AGT
 
HPO: HP:0008660
Monarch Initiative: MONDO:0017609
OMIM®: 106150; 106165; 106180; 179820; 267430
Orphanet: ORPHA3033

Definition

Renal tubular dysgenesis is a severe kidney disorder characterized by abnormal development of the kidneys before birth. In particular, kidney structures called proximal tubules are absent or underdeveloped. These structures help to reabsorb needed nutrients, water, and other materials into the blood and excrete everything else into the urine. Without functional proximal tubules, the kidneys cannot produce urine (a condition called anuria).

Fetal urine is the major component of the fluid that surrounds the fetus (amniotic fluid), and anuria leads to decreased amniotic fluid levels (oligohydramnios). Amniotic fluid helps cushion and protect the fetus and plays a role in the development of many organs, including the lungs. Oligohydramnios causes a set of abnormalities called the Potter sequence, which includes distinctive facial features such as a flattened nose and large, low-set ears; excess skin; inward- and upward-turning feet (clubfeet); and underdeveloped lungs.

Renal tubular dysgenesis also causes severe low blood pressure (hypotension). In addition, bone development in the skull is abnormal in some affected individuals, causing a large space between the bones of the skull (fontanelles).

As a result of the serious health problems caused by renal tubular dysgenesis, affected individuals usually die before birth, are stillborn, or die soon after birth from respiratory failure. Rarely, with treatment, affected individuals survive into childhood. Their blood pressure usually normalizes, but they quickly develop chronic kidney disease, which is characterized by reduced kidney function that worsens over time. [from MedlinePlus Genetics]

Conditions with this feature

Renal tubular dysgenesis of genetic origin
MedGen UID:
1826125
Concept ID:
C5681536
Disease or Syndrome
An instance of renal tubular dysgenesis that is caused by a modification of the individual's genome.

Professional guidelines

PubMed

Hertenstein CB, Miller KA, Estroff JA, Blakemore KJ
Prenat Diagn 2024 Feb;44(2):222-236. Epub 2024 Jan 27 doi: 10.1002/pd.6517. PMID: 38279830
Shi X, Ding H, Li C, Liu L, Yu L, Zhu J, Wu J
Ann Med 2023 Dec;55(1):2215539. doi: 10.1080/07853890.2023.2215539. PMID: 37243546Free PMC Article
Daoud H, Luco SM, Li R, Bareke E, Beaulieu C, Jarinova O, Carson N, Nikkel SM, Graham GE, Richer J, Armour C, Bulman DE, Chakraborty P, Geraghty M, Lines MA, Lacaze-Masmonteil T, Majewski J, Boycott KM, Dyment DA
CMAJ 2016 Aug 9;188(11):E254-E260. Epub 2016 May 30 doi: 10.1503/cmaj.150823. PMID: 27241786Free PMC Article

Recent clinical studies

Etiology

Hertenstein CB, Miller KA, Estroff JA, Blakemore KJ
Prenat Diagn 2024 Feb;44(2):222-236. Epub 2024 Jan 27 doi: 10.1002/pd.6517. PMID: 38279830
Shi X, Ding H, Li C, Liu L, Yu L, Zhu J, Wu J
Ann Med 2023 Dec;55(1):2215539. doi: 10.1080/07853890.2023.2215539. PMID: 37243546Free PMC Article
Banuelos R, Mallawaarachchi A, Doyle H, Mogra R
Fetal Diagn Ther 2023;50(1):17-21. Epub 2023 Jan 18 doi: 10.1159/000529081. PMID: 36652927
Plazanet C, Arrondel C, Chavant F, Gubler MC
Pediatr Nephrol 2014 Jul;29(7):1221-30. Epub 2014 Jan 30 doi: 10.1007/s00467-013-2749-4. PMID: 24477978
Moldavsky M
Isr Med Assoc J 2009 Jan;11(1):6-10. PMID: 19344005

Diagnosis

Gaffar S, Arora P, Ramanathan R
J Investig Med High Impact Case Rep 2022 Jan-Dec;10:23247096221111775. doi: 10.1177/23247096221111775. PMID: 35848000Free PMC Article
Gubler MC
Pediatr Nephrol 2014 Jan;29(1):51-9. Epub 2013 May 1 doi: 10.1007/s00467-013-2480-1. PMID: 23636579
Gubler MC, Antignac C
Kidney Int 2010 Mar;77(5):400-6. Epub 2009 Nov 18 doi: 10.1038/ki.2009.423. PMID: 19924102
Moldavsky M
Isr Med Assoc J 2009 Jan;11(1):6-10. PMID: 19344005
Allanson JE, Hunter AG, Mettler GS, Jimenez C
Am J Med Genet 1992 Jul 15;43(5):811-4. doi: 10.1002/ajmg.1320430512. PMID: 1642268

Therapy

Plazanet C, Arrondel C, Chavant F, Gubler MC
Pediatr Nephrol 2014 Jul;29(7):1221-30. Epub 2014 Jan 30 doi: 10.1007/s00467-013-2749-4. PMID: 24477978
Schreiber R, Gubler MC, Gribouval O, Shalev H, Landau D
Pediatr Nephrol 2010 Dec;25(12):2531-4. Epub 2010 Jul 6 doi: 10.1007/s00467-010-1584-0. PMID: 20607303
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Prognosis

Hertenstein CB, Miller KA, Estroff JA, Blakemore KJ
Prenat Diagn 2024 Feb;44(2):222-236. Epub 2024 Jan 27 doi: 10.1002/pd.6517. PMID: 38279830
Vincent KM, Alrajhi A, Lazier J, Bonin B, Lawrence S, Weiler G, Armour CM
Mol Genet Genomic Med 2022 May;10(5):e1920. Epub 2022 Mar 14 doi: 10.1002/mgg3.1920. PMID: 35286024Free PMC Article
Gribouval O, Morinière V, Pawtowski A, Arrondel C, Sallinen SL, Saloranta C, Clericuzio C, Viot G, Tantau J, Blesson S, Cloarec S, Machet MC, Chitayat D, Thauvin C, Laurent N, Sampson JR, Bernstein JA, Clemenson A, Prieur F, Daniel L, Levy-Mozziconacci A, Lachlan K, Alessandri JL, Cartault F, Rivière JP, Picard N, Baumann C, Delezoide AL, Belar Ortega M, Chassaing N, Labrune P, Yu S, Firth H, Wellesley D, Bitzan M, Alfares A, Braverman N, Krogh L, Tolmie J, Gaspar H, Doray B, Majore S, Bonneau D, Triau S, Loirat C, David A, Bartholdi D, Peleg A, Brackman D, Stone R, DeBerardinis R, Corvol P, Michaud A, Antignac C, Gubler MC
Hum Mutat 2012 Feb;33(2):316-26. Epub 2011 Dec 22 doi: 10.1002/humu.21661. PMID: 22095942
Moldavsky M
Isr Med Assoc J 2009 Jan;11(1):6-10. PMID: 19344005
Atasay B, Günlemez A, Arsan S, Bakkaloğlu S, Tulunay O, Yalçinkaya F
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Clinical prediction guides

Jordan P, Dorval G, Arrondel C, Morinière V, Tournant C, Audrezet MP, Michel-Calemard L, Putoux A, Lesca G, Labalme A, Whalen S, Loeuillet L, Martinovic J, Attie-Bitach T, Bessières B, Schaefer E, Scheidecker S, Lambert L, Beneteau C, Patat O, Boute-Benejean O, Molin A, Guimiot F, Fontanarosa N, Nizon M, Lefebvre M, Jeanpierre C, Saunier S, Heidet L
Hum Mutat 2022 Mar;43(3):347-361. Epub 2022 Jan 10 doi: 10.1002/humu.24324. PMID: 35005812
Yosypiv IV
Pediatr Nephrol 2014 Apr;29(4):609-20. Epub 2013 Sep 7 doi: 10.1007/s00467-013-2616-3. PMID: 24061643
Gubler MC
Pediatr Nephrol 2014 Jan;29(1):51-9. Epub 2013 May 1 doi: 10.1007/s00467-013-2480-1. PMID: 23636579
Gribouval O, Morinière V, Pawtowski A, Arrondel C, Sallinen SL, Saloranta C, Clericuzio C, Viot G, Tantau J, Blesson S, Cloarec S, Machet MC, Chitayat D, Thauvin C, Laurent N, Sampson JR, Bernstein JA, Clemenson A, Prieur F, Daniel L, Levy-Mozziconacci A, Lachlan K, Alessandri JL, Cartault F, Rivière JP, Picard N, Baumann C, Delezoide AL, Belar Ortega M, Chassaing N, Labrune P, Yu S, Firth H, Wellesley D, Bitzan M, Alfares A, Braverman N, Krogh L, Tolmie J, Gaspar H, Doray B, Majore S, Bonneau D, Triau S, Loirat C, David A, Bartholdi D, Peleg A, Brackman D, Stone R, DeBerardinis R, Corvol P, Michaud A, Antignac C, Gubler MC
Hum Mutat 2012 Feb;33(2):316-26. Epub 2011 Dec 22 doi: 10.1002/humu.21661. PMID: 22095942
Yosypiv IV
Pediatr Nephrol 2011 Sep;26(9):1499-512. Epub 2011 Feb 26 doi: 10.1007/s00467-011-1820-2. PMID: 21359618

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