Renal tubular dysgenesis

• Published in: Pediatric nephrology (Berlin, West) West), 2014, Vol.29 (1), p.51-59
• Main Author: Gubler, Marie-Claire
• Format: Article
• Language: English
• Subjects: Animal experimentation; Anuria; Blood pressure; Children; Diagnosis; Diseases; Educational Review; Enzymes; Female; Fetofetal Transfusion - complications; Gene mutations; Genetic aspects; Humans; Hypotension; Infant, Newborn; Kidney diseases; Kidney Tubules, Proximal - abnormalities; Kidney Tubules, Proximal - pathology; Kidney Tubules, Proximal - physiopathology; Kidneys; Medicine; Medicine & Public Health; Mutation; Nephrology; Patients; Pediatrics; Pregnancy; Ultrasonic imaging; Urogenital Abnormalities - etiology; Urogenital Abnormalities - pathology; Urogenital Abnormalities - physiopathology; Urology; Veins & arteries
• ISSN: 0931-041X; 1432-198X
• DOI: 10.1007/s00467-013-2480-1

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.