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Case Reports
. 2025 Jun 16:e64155.
doi: 10.1002/ajmg.a.64155. Online ahead of print.

Diagnostic Challenges of Inherited Renal Tubular Dysgenesis

Michelle Joy Wang  1   2 , Christhian A Cano-Guerra  3 , Drucilla J Roberts  4 , Lydia Shook  5 , Sarah N Bernstein  5 , Teresa Victoria  6 , Paul K Fadakar  7 , Megan Aurora  3 , Brian G Skotko  1
Affiliations
Case Reports

Diagnostic Challenges of Inherited Renal Tubular Dysgenesis

Michelle Joy Wang et al. Am J Med Genet A. .

Abstract

We present a case of renal tubular dysgenesis, a rare etiology of antenatal oligohydramnios and postnatal intrinsic renal failure in a premature female neonate with prenatal oligohydramnios and growth restriction associated with a previously unassociated congenital anomaly of esophageal atresia. Postnatally, the patient had anuric renal failure, medically refractory hypotension, and respiratory failure in the setting of pulmonary hypoplasia. Genetic testing with trio genome sequencing revealed biallelic loss of function variants in the ACE gene, one assumed de novo and one maternally inherited. The following case describes the prenatal and postnatal diagnostic challenges and provides a review of current knowledge and management recommendations for this condition.

Keywords: oligohydramnios; prenatal diagnosis; renal tubular dysgenesis.

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References

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