Renal tubular dysgenesis
- 1 May 2013
- journal article
- review article
- Published by Springer Science and Business Media LLC in Pediatric Nephrology
- Vol. 29 (1), 51-59
- https://doi.org/10.1007/s00467-013-2480-1
Abstract
Renal tubular dysgenesis (RTD) is a severe foetal disorder characterised by the absence or poor development of proximal tubules, early onset and persistent anuria (leading to oligohydramnios and the Potter sequence) and ossification defects of the skull. In most cases, early death occurs from pulmonary hypoplasia, anuria and refractory arterial hypotension. RTD may be acquired during foetal development or inherited as an autosomal recessive disease. Inherited RTD is genetically heterogeneous and linked to mutations in the genes encoding the major components of the renin–angiotensin system (RAS): angiotensinogen, renin, angiotensin-converting enzyme or angiotensin II receptor type 1. Mutations result in either the absence of production or lack of efficacy of angiotensin II. Secondary RTD has been observed in various situations, particularly in the donor twin of severe twin-to-twin transfusion syndrome, in foetuses affected with congenital haemochromatosis or in foetuses exposed to RAS blockers. All cases result in renal hypoperfusion. These examples illustrate the importance of a functional RAS in the maintenance of blood pressure and renal blood flow for humans during foetal life. The diagnosis of RTD in an anuric foetus with normal renal sonography results is important for the management of the foetus or neonate. Depending on the genetic or secondary cause of the disease, such findings can lead to genetic counselling or the prevention of recurrence in subsequent pregnancies.Keywords
This publication has 57 references indexed in Scilit:
- Autosomal Dominant Mutation in the Signal Peptide of Renin in a Kindred With Anemia, Hyperuricemia, and CKDAmerican Journal of Kidney Diseases, 2011
- Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesisHuman Mutation, 2011
- Dominant Renin Gene Mutations Associated with Early-Onset Hyperuricemia, Anemia, and Chronic Kidney FailureAmerican Journal of Human Genetics, 2009
- A further case of renal tubular dysgenesis surviving the neonatal periodEuropean Journal of Pediatrics, 2008
- Dysgénésie tubulaire proximale et mutation du gène de la rénineArchives de Pédiatrie, 2007
- Angiotensin-converting enzyme inhibitor fetopathy: long-term outcomeArchives of Disease in Childhood: Fetal & Neonatal, 2007
- Inherited renal tubular dysgenesis: the first patients surviving the neonatal periodEuropean Journal of Pediatrics, 2007
- Renovascular hypertension commencing during fetal lifeArchives of Disease in Childhood: Fetal & Neonatal, 2007
- Foetal kidney maldevelopment in maternal use of angiotensin II type I receptor antagonistsPediatric Nephrology, 2006
- Renal tubular dysgenesis in twinsPediatric Nephrology, 1998