Advertisement

European Journal of Pediatrics

, Volume 167, Issue 3, pp 311–316 | Cite as

Inherited renal tubular dysgenesis: the first patients surviving the neonatal period

  • Andrea Zingg-Schenk
  • Justine Bacchetta
  • Pierre Corvol
  • Annie Michaud
  • Thomas Stallmach
  • Pierre Cochat
  • Olivier Gribouval
  • Marie-Claire Gubler
  • Thomas J. NeuhausEmail author
Original Article

Abstract

Renal tubular dysgenesis (RTD) is a clinical disorder either acquired during fetal development or inherited as an autosomal recessive condition. Inherited RTD is caused by mutations in the genes encoding the components of the renin-angiotensin system angiotensinogen, renin, angiotensin-converting enzyme and angiotensin II receptor type 1. Inherited RTD is characterized by early onset oligohydramnios, skull ossification defects, preterm birth and neonatal pulmonary and renal failure. The histological hallmark is the absence or poor development of proximal tubules. So far, all patients died either in utero or shortly after birth. We report the first patients with inherited RTD surviving the neonatal period and still being alive. Genetic and functional analysis of the renin-angiotensin system contributes to the diagnosis of RTD. In conclusion, the clinical diagnosis of inherited RTD is easily missed after birth without renal biopsy or information on affected family members. Genetic and functional analysis of the renin-angiotensin system contributes to correct diagnosis.

Keywords

Renin-angiotensin system Renal tubular dysgenesis Inherited 

Notes

Acknowledgements

We thank Dr Raymonde Bouvier (Lyon) and Dr Frederique Dijoud (Lyon) for providing the histological slides.

References

  1. 1.
    Allanson JE, Hunter AG, Mettler GS, Jimenez C (1992) Renal tubular dysgenesis: a not uncommon autosomal recessive syndrome: a review. Am J Med Genet 43(5):811–814, Jul 15PubMedCrossRefGoogle Scholar
  2. 2.
    Eccles MR, He S, Kumar F, Fox J, Zhou C, French M, Tsai RWS (2002) PAX genes in development and disease: the role of PAX2 in urogenital tract development. Int J Dev Biol 46:535–544PubMedGoogle Scholar
  3. 3.
    Genest DR, Lage JM (1991) Absence of normal-appearing proximal tubules in the fetal and neonatal kidney: prevalence and significance. Hum Pathol 22:147–153PubMedCrossRefGoogle Scholar
  4. 4.
    Gribouval O, Gonzales M, Neuhaus TJ, Aziza J, Bieth E, Laurent N, Bouton JM, Feuillet F, Makni S, Amar HB, Laube GF, Delezoide AL, Bouvier R, Dijoud F, Ollagnon-Roman E, Roume J, Joubert M, Antignac C, Gubler MC (2005) Mutations in genes in the renin-angiotensin system are associated with autosomal recessive renal tubular dysgenesis. Nature Genetics 37:964–968PubMedCrossRefGoogle Scholar
  5. 5.
    Johal JS, Thorp JW, Oyer CE (1998) Neonatal hemochromatosis, renal tubular dysgenesis, and hypocalvaria in a neonate. Pediatr Dev 1:433–437CrossRefGoogle Scholar
  6. 6.
    Kriegsmann J, Coerdt W, Kommoss F, Beetz R, Hallermann C, Muntefering H (2000) Renal tubular dysgenesis (RTD)-an important cause of the oligohydramnion-sequence. Report of three cases and review of the literature. Pathol Res Pract 196(12):861–865PubMedGoogle Scholar
  7. 7.
    Lacoste M, Cai Y, Guicharnaud L, Mounier F, Dumez Y, Bouvier R, Dijoud F, Gonzales M, Chatten J, Delezoide AL, Daniel L, Joubert M, Laurent N, Aziza J, Sellami T, Amar HB, Jarnet C, Frances AM, Daikha-Dahmane F, Coulomb A, Neuhaus TJ, Foliguet B, Chenal P, Marcorelles P, Gasc JM, Corvol P, Gubler MC (2006) Renal tubular dysgenesis, a not uncommon autosomal recessive disorder leading to oligohydramnios: role of the Renin-Angiotensin system. J Am Soc Nephrol 17(8):2253–2263PubMedCrossRefGoogle Scholar
  8. 8.
    Piper JM, Ray WA, Rosa FW (1992) Pregnancy following exposure to angiotensin-converting enzyme inhibitors. Obstet Gynecol 80(3 Pt 1):429–432PubMedGoogle Scholar
  9. 9.
    Plouin PF, Chatellier G, Guyene TT, Vincent N, Corvol P (1989) Progrès récents dans l’exploration clinique du système rénine. Valeurs de référence et conditions de validité. Presse Med 18:917–921PubMedGoogle Scholar
  10. 10.
    Pryde PG, Sedman AB, Nugent CE, Barr M Jr (1993) Angiotensin-converting enzyme inhibitor fetopathy. J Am Soc Nephrol 3(9):575–582Google Scholar
  11. 11.
    Quan A (2006) Fetopathy associated with exposure to angiotensin converting enzyme inhibitors and angiotensin receptor antagonists. Early Hum Dev 82(1):23–28PubMedCrossRefGoogle Scholar
  12. 12.
    Ulinski T, Lescure S, Beaufils S, Guigonis V, Decramer S, Morin D, Clauin S, Deschenes G, Bouissou F, Bensman A, Bellanne-Chantelot C (2006) Renal phenotypes related to hepatocyte nuclear factor-1beta (TCF2) mutations in a pediatric cohort. J Am Soc Nephrol 17(2):497–503PubMedCrossRefGoogle Scholar
  13. 13.
    Yosypiv IV, El-Dahr SS (2005) Role of the renin-angiotensin system in the development of the uretric bud and renal collecting system. Pediatr Nephrol 20:1219–1229PubMedCrossRefGoogle Scholar

Copyright information

© Springer-Verlag 2007

Authors and Affiliations

  • Andrea Zingg-Schenk
    • 1
  • Justine Bacchetta
    • 2
  • Pierre Corvol
    • 3
  • Annie Michaud
    • 3
  • Thomas Stallmach
    • 4
  • Pierre Cochat
    • 2
  • Olivier Gribouval
    • 5
  • Marie-Claire Gubler
    • 5
  • Thomas J. Neuhaus
    • 1
    Email author
  1. 1.Nephrology UnitUniversity Children’s HospitalZürichSwitzerland
  2. 2.Department of Pediatrics, Hopital Edouard-HerriotUniversity Claude-BernardLyon Cedex 03France
  3. 3.Inserm, U.3.6., Pathologie Vasculaire et Endocrinologie RénaleCollege de France, 11Paris Cedex 05France
  4. 4.Department of PathologyUniversity ZürichZurichSwitzerland
  5. 5.Inserm U574, Hopital Necker-Enfants MaladesUniversity René DescartesParis Cedex 15France

Personalised recommendations