Fetopathology and developmental pathology of the embryo and fetus: Congenital tubular renal dysgenesis

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Congenital tubular renal dysgenesis

Introduction

Defined by histopathologic findings of a paucity or abscence of proximal tubules in the kidney.

Clinical signs

rare malformation
late-onset oligohydramnion
Potter sequence
persistent anuria in newborn, renal failure
prognosis: lethal condition
may be associated with hypoplastic cranium, widening of cranial sutures

Etiology, pathogenesis

Familiar
- AR inheritance
- mutations in genes in the renin-angiotensin system
Sporadic
- in utero exposure to ACE inhibitors (antihypertensive drug)
- renal hypoperfusion in fetus: twin transfusion syndrom (RTD found in donor) etc.

Macroscopic appearance

Kidneys are usually grossly unremarkable and normal sized.

Histology

tubules cannot be differentiated into proximal and distal portion
crowding of glomeruli
all tubules are EMA positive (normally are positive only distal tubules)

Kidney, EMA: all tubules are positive (72647)

Pictures

Renal tubular dysplasia, HE and EMA; monoclonal antibody EMA (for Epithelial Membrane Antigen) reacts with all tubules: Tubular renal dysplasia, HE 40x (72648) Tubular renal dysplasia, EMA 40x (72647)

Normal kidney, EMA (only distal tubules react, compare with images above): Normal kidney, 18-week fetus, EMA 40x (72636)