Cystic diseases of the kidney are a heterogeneous group of disorders that can be inherited, developmental, or acquired.
Modified from Torres, V. E., & Harris, P. C. (2016). Cystic diseases of the kidney. In B. M. Brenner (Ed.), The kidney (10th ed.). Philadelphia: W. B. Saunders.Classification of Cystic Kidney Diseases
Autosomal dominant polycystic kidney disease (ADPKD)
Autosomal recessive polycystic kidney disease
Autosomal dominant or X-linked diseases in the differential diagnosis of ADPKD
- • Tuberous sclerosis complex
- • von Hippel-Lindau syndrome
- • Hepatocyte nuclear factor-1 associated nephropathy
- • Familial renal hamartomas associated with hyperparathyroidism–jaw tumor syndrome
- • Orofaciodigital syndrome
Autosomal dominant medullary cystic kidney disease
(autosomal dominant tubulointerstitial kidney disease)
Hereditary recessive ciliopathies with interstitial nephritis and/or cysts
- • Nephronophthisis
- • Joubert syndrome
- • Meckel-Gruber syndrome
- • Bardet-Biedl syndrome
- • Alström syndrome
- • Nephronophthisis variants associated with skeletal defects
Renal cystic dysplasias
- • Multicystic kidney dysplasia
Other cystic kidney disorders
- • Simple cysts
- • Localized or unilateral renal cystic disease
- • Medullary sponge kidney
- • Acquired cystic kidney disease
Renal cystic neoplasms
- • Cystic renal cell carcinoma
- • Multilocular cystic nephroma
- • Cystic partially differentiated nephroblastoma
- • Mixed epithelial and stromal tumor
Cysts not of tubular origin
- • Cystic disease of the renal sinus
- • Perirenal lymphangiomas
- • Subcapsular and perirenal urinomas
Pyelocalyceal cysts
7 Interesting Facts of Cystic diseases of the kidney
1. Cystic diseases of the kidney are a heterogeneous group of disorders with different origins. The presence of multiple bilateral kidney cysts should raise suspicion of inherited kidney cystic disease.
2. Most of the time the differential diagnosis of cystic diseases can be made based on clinical presentation, family history, and imaging studies; genetic testing can be helpful in equivocal cases.
3. ADPKD, the most common inherited cystic disease of the kidney, is a multisystem disease characterized by the progressive development of bilateral kidney cysts but can additionally present with a wide variety of extrarenal manifestations that need to be recognized.
4. Patients with ADPKD present with large phenotypic variability due to heterogeneity at the gene ( PKD1 and PKD2 ) and mutation level but also genetic and environmental modifying factors.
5. The vasopressin 2 receptor antagonist tolvaptan has been the most successful pharmacologic intervention thus far at reducing the rate of TKV increase and kidney function decline in patients with ADPKD.
Kidney cysts are fluid-filled cavities lined by epithelial cells that derive primarily from the tubules or collecting duct, losing its connection with their origin tubule once developed. Various imaging techniques can identify kidney cysts, which, depending on their characteristics and distribution and together with clinical and genetic information on the patient, can aid in the differential diagnosis. In some the kidney cysts are the prominent abnormality, whereas in others the cysts are part of a more complex phenotype.
