Renal tubular dysgenesis is a severe disorder of autosomal recessive inheritance. Anuria already presents in uteri (oligohydramnios) and the children die soon after birth of pulmonary dysfunction.
The pregnancy is characterized by oligohydramnios due to fetal anuria. Perinatal death occurs out of pulnonary hypoplasia.
Symptoms also include redundant skin, facial dysmorphia and lung hypoplasia. Often skull ossification defects are present.
The diagnosis can be made by histomorphology. The kidneys show no or only few differentiated proximal tubules.
Oligohydramnios | |
Oligohydramnios is the first symptom of RTD. Often the fetal ultrasound also reveals the malformations of both kidneys. |
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Malformations of the urinary tract | |
Renal malformations include absence of proximal tubules and renal artery hyperplasia. Early signs can be found by fetal ultrasound along with oligohydramnios. |
1. |
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Barr M et al. (1991) ACE inhibitor fetopathy and hypocalvaria: the kidney-skull connection. |
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6. |
MacMahon P et al. (1990) A further family with congenital renal proximal tubular dysgenesis. |
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Schwartz BR et al. (1986) Isolated congenital renal tubular immaturity in siblings. |
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McFadden DE et al. (1997) Renal tubular dysgenesis with calvarial hypoplasia: report of two additional cases and review. |
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11. |
Orphanet article Orphanet ID 3033 |
12. |
OMIM.ORG article Omim 267430 |