Renaming Medullary Cystic Kidney Disease: A Review of Semantic Nomenclature

Medullary cystic kidney disease (MCKD) was originally described and designated with this nomenclature based on the etiology and the related clinicopathological features recognized during the mid-20th century. The designation of the MCKD term has stemmed from a set of morphological features characterized by the presence of epithelial-lined cysts ranging in size from a few microns to 1 cm in diameter, primarily located at the corticomedullary junction of the kidney. However, this term does not adequately represent the expanding knowledge about the kidney condition it describes, including its genetically based etiopathogenesis and the related clinicopathological correlations. The need for a more patient-centered and specific terminology has been recognized by the medical community and has necessitated reviewing the MCKD nomenclature. The proposed renaming of the condition to autosomal dominant tubulointerstitial kidney disease aligns closely with the genetic and pathological foundations of the disease. This renaming aims not only to enhance awareness about this kidney condition but also to improve its diagnostic accuracy and treatment strategies. This article highlights the historical observations related to MCKD and underscores the importance of adopting a revised and precise terminology.