renal tubular dysgenesis
Also written as: RTD — Renal Tubular Dysgenesis
Rare autosomal recessive disorder characterized by absence or severe reduction of proximal tubules in the kidney.
Full Definition
Renal tubular dysgenesis (RTD) is a severe hereditary nephropathy characterized by the absence or marked reduction of proximal tubules throughout both kidneys. This condition typically presents in utero with oligohydramnios due to fetal anuria, leading to Potter sequence with characteristic facial features and pulmonary hypoplasia. RTD is caused by mutations in genes encoding components of the renin-angiotensin system, including ACE, AGT, AGTR1, or REN. Affected infants usually present with severe anemia, failure to thrive, and progressive chronic kidney disease. The condition carries a poor prognosis, with most patients requiring early renal replacement therapy and having significant mortality in the neonatal period.
Usage
Usage note: Often abbreviated as RTD; a distinct entity from other forms of renal dysplasia.
In Context
- "Prenatal ultrasound showed severe oligohydramnios, raising suspicion for renal tubular dysgenesis." — Maternal-fetal medicine consultation
- "Genetic testing confirmed renal tubular dysgenesis with a homozygous mutation in the ACE gene." — Pediatric nephrology genetics report