Radiology imaging of pediatric ADPKD-IFT140 cases. (A, B) Case IFT1-IV-2: MRI at 17 years of age showing 12 cysts on the right kidney and 16 on the left. The largest measures 26 mm on the lower pole of the right and 4 cm on the upper pole of the left. The majority are <5 mm in length. A: Coronal T2 image (MRI) with the arrow pointing to the 4 cm cyst with internal septation located at the upper pole of the left kidney. B: Coronal T2 MRI with the arrow pointing at the 26 mm simple cyst on the lower pole of the right kidney. (C, D) Case IFT1-IV-4: Ultrasound imaging at 4 years of age showing 3 cysts on the right kidney and none on the left. All cysts measured 2-5 mm. Longitudinal ultrasound pictures of the right kidney with the arrow pointing at the cysts. (E, F) Case IFT2-III-5: Ultrasound imaging at 9 months old showing multiple cysts on the right kidney with a 3 cm cyst on the upper pole and a 0.7 cm cyst on the left kidney.
Monoallelic IFT140 Variants Causing Childhood-Onset Autosomal Dominant Polycystic Kidney Disease
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