ADPKD—what the radiologist should know

Abstract

ADPKD is the commonest renal genetic disorder affecting almost 60,000 patients in the United Kingdom alone and over 12 million worldwide. 1 It is characterized by progressive cystic dilatation of renal tubules causing architectural distortion, increase in kidney size and decline in renal function often culminating in end stage renal disease. Most inherited polycystic kidney disease is acquired in an autosomal dominant fashion (ADPKD) and usually presents symptomatically in adult life. A rarer disease-autosomal recessive PKD presents much earlier during the antenatal or neonatal period. We focus our attention on ADPKD in our review. GeneticS AnD PAtHoGeneSiS Affected individuals have a 50% risk of passing it on to their offspring. Although almost one in four cases of ADPKD present with no known family history; a large proportion of these are due to undiagnosed cases in family members and roughly 6% are as a result of de novo mutation 2

Artificial Intelligence Algorithm-Based Computed Tomography Image of Both Kidneys in Diagnosis of Renal Dysplasia

“…In renal dysplasia, ultrasound, computed tomography (CT), magnetic resonance imaging (MRI), and intravenous pyelography are more common in diagnostic examinations. Among them, ultrasound examination has become a commonly used examination method for ADPKD due to its simple and convenient operation, low price, and noninvasiveness [ 11 ]. CT and MRI examinations are mostly used for dysplasia/absence of single kidney and horseshoe kidney [ 12 ] according to the manifestations of the disease.…”

Polycystic Renal Disease Presented by Anuria and Nephrolithiasis Associated Progressive Kidney Damage: A Case Report

“…1 Kidney stones develop in 20-30% of patients with ADPKD and urinary stones are usually treated with conservative methods (urinary alkalinization, spontaneous stone passage, extracorporeal shock wave etc.). 2,3 Uric acid stones and calcium oxalate stones are the most frequently detected stones and seen in similar proportions. 4 Hydronephrosis, which is the most valuable radiological finding in the diagnosis of stone-related postrenal insufficiency, may be difficult to differentiate from common cysts in ADPKD patients.…”

“…1 Kidney stones develop in 20-30% of patients with ADPKD and urinary stones are usually treated with conservative methods (urinary alkalinization, spontaneous stone passage, extracorporeal shock wave etc.). 2,3 Uric acid stones and calcium oxalate stones are the most frequently detected stones and seen in similar proportions.4 Hydronephrosis, which is the most valuable radiological finding in the diagnosis of stone-related postrenal insufficiency, may be difficult to differentiate from common cysts in ADPKD patients. 3 When kidney dysfunction develops in ADPKD patients, glomerular filtration rate (GFR) loss reaches an average of 4.4 to 5.9 mL/min per year.1 Faster deterioration in these patients requires investigation for prerenal factors such as dehydration that triggers acute kidney damage or stone-related postrenal factors.…”

“…2,3 Uric acid stones and calcium oxalate stones are the most frequently detected stones and seen in similar proportions.4 Hydronephrosis, which is the most valuable radiological finding in the diagnosis of stone-related postrenal insufficiency, may be difficult to differentiate from common cysts in ADPKD patients. 3 When kidney dysfunction develops in ADPKD patients, glomerular filtration rate (GFR) loss reaches an average of 4.4 to 5.9 mL/min per year.1 Faster deterioration in these patients requires investigation for prerenal factors such as dehydration that triggers acute kidney damage or stone-related postrenal factors. 2 In ADPKD, stone-related postrenal obstruction should be considered in rapid GFR losses despite negative ultrasound report for hydronephrosis as there is frequent occurrence of kidney stones and the difficulty in detecting hydronephrosis with ultrasonography (US) in these patients.…”

“…However, it should be considered in patients with acute GFR losses under chronic follow-up, as in our case, and advanced imaging with low-dose non-contrast CT should definitely be performed in these patients if the diagnosis cannot be made by US. 3 Imaging methods, especially US, may be insufficient to distinguish pelvicalyceal stones because some of the cysts may contain wall or septa calcification or calcium milk. Diagnostic uncertainty may occur in the detection of kidney stones.…”