Cystic Kidney Diseases That Require a Differential Diagnosis from Autosomal Dominant Polycystic Kidney Disease (ADPKD)

Abstract

Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary cystic kidney disease, with patients often having a positive family history that is characterized by a similar phenotype. However, in atypical cases, particularly those in which family history is unclear, a differential diagnosis between ADPKD and other cystic kidney diseases is important. When diagnosing ADPKD, cystic kidney diseases that can easily be excluded using clinical information include: multiple simple renal cysts, acquired cystic kidney disease (ACKD), multilocular renal cyst/multilocular cystic nephroma/polycystic nephroma, multicystic kidney/multicystic dysplastic kidney (MCDK), and unilateral renal cystic disease (URCD). However, there are other cystic kidney diseases that usually require genetic testing, or another means of supplementing clinical information to enable a differential diagnosis of ADPKD. These include autosomal recessive polycystic kidney disease (ARPKD), autosomal dominant tubulointerstitial kidney disease (ADTKD), nephronophthisis (NPH), oral-facial-digital (OFD) syndrome type 1, and neoplastic cystic kidney disease, such as tuberous sclerosis (TSC) and Von Hippel-Lindau (VHL) syndrome. To help physicians evaluate cystic kidney diseases, this article provides a review of cystic kidney diseases for which a differential diagnosis is required for ADPKD.

Single-Center Experience of Pediatric Cystic Kidney Disease and Literature Review

“…Henske et al have demonstrated that loss-of-function mutations in the TSC1 or TSC2 genes can interfere with the structure and function of the cilia in renal tubular cells, thereby contributing to the formation of cysts in the kidneys [11]. Multicystic dysplastic kidney (MCDK) disorder was traditionally assumed to be a developmental anomaly in which the renal parenchyma fails to develop, leading to the presence of primitive ducts, cysts, and, potentially, tissues of extrarenal origin [12,13]. However, the research conducted by Harris et al suggests that MCDK, in its severe form, can be classified as part of the broader spectrum of ciliopathies, requiring further research to comprehend its underlying molecular mechanisms [14].…”

Review of the Use of Animal Models of Human Polycystic Kidney Disease for the Evaluation of Experimental Therapeutic Modalities

“…Recently, research on hereditary renal cystic diseases such as polycystic kidney disease (PKD) and nephronophthisis (NPHP) has exponentially progressed, facilitating the ongoing identification of genetic variants that lead to the development of adult PKD with the use of laboratory animals [ 1 ]. This review focuses on the utility of laboratory rodent models in the development of treatment strategies for renal cystic diseases.…”

NPHP1‐Related ciliopathies: A new case and major review of the ophthalmic manifestations of 147 reported cases

“…The NPHP1 ‐related disorders are autosomal recessive syndromes caused by pathogenic variants, commonly homozygous deletions, in the NPHP1 gene on chromosome 2q13 and are all associated with nephronophthisis (NPHP), a prevalent hereditary kidney disease that ultimately progresses to end‐stage renal disease. NPHP is typically characterized by corticomedullary cysts, polyuria, polydipsia, hyponatremia, and other signs of progression to impaired kidney function 1 . Mutation of NPHP1 is the most common cause of NPHP 2 .…”

“…NPHP is typically characterized by corticomedullary cysts, polyuria, polydipsia, hyponatremia, and other signs of progression to impaired kidney function. 1 Mutation of NPHP1 is the most common cause of NPHP. 2 Juvenile nephronophthisis‐1 is characterized by NPHP that progresses to end stage renal disease at a mean age of 13 years.…”