Renal tubular dysgenesis

摘要: 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 Potter sequence) ossification defects skull. In most cases, death occurs from pulmonary hypoplasia, refractory arterial hypotension. RTD may be acquired during inherited as an autosomal recessive disease. Inherited genetically heterogeneous linked mutations in genes encoding major components renin–angiotensin system (RAS): angiotensinogen, renin, angiotensin-converting enzyme angiotensin II receptor type 1. Mutations result either production lack efficacy II. Secondary has been observed various situations, particularly donor twin twin-to-twin transfusion syndrome, foetuses affected with congenital haemochromatosis exposed RAS blockers. All cases renal hypoperfusion. These examples illustrate importance functional maintenance blood pressure flow for humans life. The diagnosis anuric foetus normal sonography results important management neonate. Depending on genetic secondary cause disease, such findings can lead counselling prevention recurrence subsequent pregnancies.