Atypical Clinical Presentation of Autosomal Recessive Polycystic Kidney Mimicking Medullary Sponge Kidney Disease
Emmanuel Letavernier, Madeline Schwoehrer, Marine Livrozet, Camille Saint-Jacques, Laure Raymond, Radoslava Saraeva, Jean‐Philippe Haymann, Vincent Frochot, Michel Daudon, Laurent Mesnard
Abstract
Medullary sponge kidney (MSK) disease is a nephropathy characterized by the association of tubular ectasia of precalyceal ducts with sporadic cystic development, multiple renal stones, and/or nephrocalcinosis (calcification of renal parenchyma) and frequently tubular acidification defect. In most cases, both kidneys are affected. The prevalence of MSK in the general population is still unknown. In particular, some patients may develop tubular ectasia without recurrent kidney stone formation; thus, they can remain undiagnosed.
Topics & Concepts
NephrocalcinosisMedicineEctasiaPathologyKidneyAutosomal Recessive Polycystic Kidney DiseaseKidney stonesPolycystic kidney diseaseKidney diseaseAutosomal dominant polycystic kidney diseaseMedullary cavityPopulationDiseaseInternal medicineEnvironmental healthGenetic and Kidney Cyst DiseasesRenal and related cancersBiomedical Research and Pathophysiology