Renal tubular dysgenesis (RTD) is a severe disease that causes intrauterine fetal demise or early neonatal death due to absent or poor differentiation of proximal tubules in the kidney. Consequently, oligohydramnios or
anhydramnios are observed during fetal development, decreasing the amount of amniotic fluid and leading to hypotension, poor ossification of cranial sutures, Potter sequence, arthrogryposis, and pulmonary hypoplasia. RTD
can be acquired during fetal development due to the ingestion of certain drugs by the mother; it may also have a genetic origin caused by defects in genes of the renin-angiotensin-aldosterone system,following an autosomal
recessive pattern of inheritance. There are only a few cases reported in the scientific literature in which individuals survived thanks to kidney transplantation, peritoneal dialysis, and vasopressin therapy. Most of these cases were
compound heterozygous carriers. Genetic testing is of great help for identifying the degree of pathogenicity of the mutations and determining disease lethality, as well as for genetic counseling.
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