Renal tubular dysgenesis with hypocalvaria and ileocecal valve agenesis: an autopsy report

Ano: 2012 | Volume: 2 | Número: 4

Autores: A. B. Nogueira, R. Schultz, A. W. Liao, R. P. V. Fancisco, M. Zugaib

Palavras-chave: urogenital abnormalities, craniofacial abnormalities, ileocecal valve, autopsy, oligohydramnios.

Resumo Inglês:

Renal tubular dysgenesis (RTD) is a rare, lethal, autosomal recessive disorder
characterized by non-differentiation of the renal proximal convoluted tubules,
resulting in oligohydramnios. It is usually diagnosed in the second trimester
of pregnancy, following the oligohydramnios sequence, pulmonary hypoplasia
and hypocalvaria. The prognosis is poor, and death usually occurs in utero or
within the first few days of life. The pathogenesis of RTD is associated with
the perinatal use of drugs, such as angiotensin- converting enzyme inhibitors,
angiotensin II receptor antagonists, and anti- inflammatory drugs, as well
as with fetal transfusion syndrome, genetic mutations in the pathway of the
renin-angiotensin system pathway, cocaine snorting, or other pathological
mechanisms that reduce renal blood flow. Here, we report the autopsy of
a neonate born to consanguineous parents at 38 weeks of gestation, with
RTD, decreased amniotic fluid, oligohydramnios sequence, hypocalvaria,
pulmonary hypoplasia, and ileocecal valve agenesis. To our knowledge, the
latter has never been reported associated with RTD.