Intrathoracic Kidney Associated with Congenital Diaphragmatic Hernia: Prenatal Detection and Outcomes

Intrathoracic kidney (ITK) is a rare renal ectopia often diagnosed incidentally. It is infrequently detected prenatally and frequently coexists with congenital diaphragmatic hernia, a rare clinical combination with limited reported cases.

A retrospective case series was conducted of prenatally diagnosed ITK with congenital diaphragmatic hernia at a tertiary fetal medicine center over 6 years. Data included prenatal imaging, genetic studies, fetal interventions, delivery, surgical management, and long-term outcomes.

Four male fetuses with ITK and diaphragmatic hernia were identified, comprising 1.3% of congenital diaphragmatic hernia cases. Seventy-five percent had undescended testes prenatally, and two had severe right-sided hernias managed with fetoscopic tracheal occlusion. All kidneys were ipsilateral to the defect. Postnatal surgical management preserved renal function in all cases. Genetic analysis revealed one de novo pathogenic mutation.

Prenatal identification of an ITK associated with congenital diaphragmatic hernia, although rare, holds clinical significance. The anomaly appears positional without worsening prognosis. Coordinated multidisciplinary care leads to favorable outcomes.