[RENAL TUBULAR DYSGENESIS SECONDARY TO MUTATIONS IN GENES ENCODING THE RENIN-ANGIOTENSIN SYSTEM].

ABSTRACT

INTRODUCTION: Autosomal recessive renal tubular dysgenesis (RTD;OMIM 267430) is a rare kidney disease secondary to mutations in genes encoding the renin-angiotensin system which have a role in renal tissue development during fetal life and in the maintenance of blood pressure and electrolyte balance. The disease is characterized by oligohydramnios, prematurity, neonatal renal failure, hypotension and abnormalities in cranial bone development. Nearly all affected individuals die either in-utero or within the first few days of life, although a few long term survivors were reported during the last decade. We describe the management of 5 newborns diagnosed with RTD in pregnancy who survived the neonatal period, four of them belong to an extended Bedouin family. In 4/5 patients we identified a mutation in angiotensin converting enzyme (ACE) gene. Variable presentation was noticed in the patients, starting with peritoneal dialysis and extreme low blood pressure treated with vasopressors and plasma infusions and ending with no symptoms. Currently, the patients are 5-20 years old with variable stages of chronic kidney disease. In conclusion, the spectrum of RTD is wider than previously reported. Prompt diagnosis is necessary for optimal decision-making by families and physicians. Intensive treatment of low blood pressure in the postnatal period is critical for their survival and better prognosis.