Long-term follow up of a boy with unilateral autosomal dominant polycystic kidney disease and contralateral renal agenesis
Article Category: Original articles/Prace oryginalne
Published Online: Jan 02, 2018
Page range: 380 - 383
Received: Oct 17, 2017
Accepted: Oct 30, 2017
DOI: https://doi.org/10.34763/devperiodmed.20172104.380383
© 2017 Grażyna Krzemień, Agnieszka Turczyn, Małgorzata Pańczyk-Tomaszewska, Aleksandra Jakimów-Kostrzewa, Agnieszka Szmigielska, published by Sciendo
This work is licensed under the Creative Commons Attribution 4.0 International License.
In patients with autosomal dominant polycystic kidney disease (ADPKD) coexisting abnormalities of the urinary tract are considered rare. Only a few patients with ADPKD and congenital abnormalities of the kidney and urinary tract- renal agenesis, hypoplasia, aplasia, horseshoe kidney, ectopic multicystic dysplasic kidney, or subpelvic junction obstruction were reported. Renal agenesis occurs in approximately 1 in 1.500.000-3.000.000 patients with ADPKD. We report a boy with ADPKD and renal agenesis diagnosed at the age of 12 years. ADPKD was diagnosed in some other members of the family. Additionally to kidney changes, mitral valve prolapse was found on echocardiography. At the age of 18 years high normal blood pressure was recognized and laboratory tests demonstrated: serum creatinine 1.0 mg/dl, glomerular filtrate rate 97.9 ml/min/1.73m2, isotopic creatinine clearance (Tc-99mDTPA) 99 ml/min/1.73m2, normal urinalysis, no microalbuminuria.
Conclusions
In children with positive family history of ADPKD, screening ultrasonography of the kidney performed at the request of the family, allows the early diagnosis of sporadic present abnormalities of the kidney and urinary tract.