Magnetic resonance imaging based kidney volume assessment for risk stratification in pediatric autosomal dominant polycystic kidney disease

IntroductionIn the pediatric context, most children with autosomal dominant polycystic kidney disease (ADPKD) maintain a normal glomerular filtration rate (GFR) despite underlying structural kidney damage, highlighting the critical need for early intervention and predictive markers. Due to the inverse relationship between kidney volume and kidney function, risk assessments have been presented on the basis of kidney volume. The aim of this study was to use magnetic resonance imaging (MRI)-based kidney volume assessment for risk stratification in pediatric ADPKD and to investigate clinical and genetic differences among risk groups.MethodsThis multicenter, cross-sectional, and case-control study included 75 genetically confirmed pediatric ADPKD patients (5–18 years) and 27 controls. Kidney function was assessed by eGFR calculated from serum creatinine and cystatin C using the CKiD-U25 equation. Blood pressure was assessed by both office and 24-hour ambulatory measurements. Kidney volume was calculated from MRI using the stereological method. Total kidney volume was adjusted for the height (htTKV). Patients were stratified from A to E classes according to the Leuven Imaging Classification (LIC) using MRI-derived htTKV.ResultsMedian (Q1-Q3) age of the patients was 6.0 (2.0–10.0) years, 56% were male. There were no differences in sex, age, height-SDS, or GFR between the patient and control groups. Of the patients, 89% had PKD1 and 11% had PKD2 mutations. Non-missense mutations were 73% in PKD1 and 75% in PKD2. Twenty patients (27%) had hypertension based on ABPM. Median htTKV of the patients was significantly higher than controls (141 vs. 117 ml/m, p = 0.0003). LIC stratification revealed Classes A (38.7%), B (28%), C (24%), and D + E (9.3%). All children in class D + E and 94% in class C had PKD1 variants. Class D + E patients had significantly higher blood pressure values and hypertension compared to other classes (p > 0.05 for all).DiscussionThis study distinguishes itself by using MRI-based measurements of kidney volume to stratify pediatric ADPKD patients into specific risk groups. It is important to note that PKD1 mutation and elevated blood pressure were higher in the high-risk groups stratified by age and kidney volume. Our results need to be confirmed in further studies

Urinary Ultrasound and Other Imaging for Ureteropelvic Junction Type Hydronephrosis (UPJHN)

Ultrasound is the main imaging study used to diagnose ureteropelvic junction (UPJ) obstruction. On ultrasound, abnormal dilatation of the pelvicalyceal system of varying degrees is seen, whereas the ureter is normal in caliber. A properly performed study provides essential information regarding laterality, renal size, thickness, and architecture of the renal cortex and degree of dilatation of the pelvicalyceal system. Doppler ultrasound may identify a crossing vessel, when present. This imaging method also has been used differentiating obstructive from non-obstructive hydronephrosis by renal arterial resistive index measurements. Abdominal radiographs may show soft tissue fullness, bulging of the flank, and displacement of bowel loops from the affected side. The voiding/micturating cystourethrogram helps exclude other causes of upper tract dilatation, including vesicoureteral reflux, urethral valves, and ureteroceles. Computerized Tomography angiography with multiplanar reformation and three-dimensional images may be used to depict suspected crossing vessels as a cause of UPJ obstruction in older children and adults. Magnetic Resonance Urography has progressed significantly in recent years due to the development of both hardware and software that are used to generate high-resolution images. This imaging technique currently allows for the detailed assessment of urinary tract anatomy, while also providing information regarding renal function, including differential renal function, and the presence or absence of obstructive uropathy

Destructive diskovertebral lesions in ankylosing spondylitis: Appearance on magnetic resonance imaging

We report magnetic resonance imaging findings of diskovertebral lesions in a case of ankylosing spondylitis mimicking metastatic and/or infectious disease. Multiple hypointense areas were seen on TI-weighted images corresponding to hyperintense areas on T2-weighted images in dorsal, lumbar, and sacral vertebral bodies and the manubriosternal joint, with accompanying soft tissue masses. Diagnosis was achieved through biopsy, regression of the paravertebral soft tissue masses, later detection of bilateral sacroiliitis on computed tomography, and presence of histocompatibility antigen HILA-B27

Enteroclysis in older children and teenagers

Background Enteroclysis (EC) has been widely and successfully used for evaluation of the small bowel in adults for about 30 years. However, despite recently improved intubation and examination techniques, in many paediatric radiology centres it is still not the preferred conventional barium study for the evaluation of small bowel pathology in children

Dorsolumbosacral agenesis

Caudal regression is a rare congenital spinal anomaly characterized by partial or total agenesis of the sacral and/or lumbar spine. Sacral and/or lumbosacral agenesis has been well described. However, especially as far as MRI studies are concerned, thoracolumbosacral agenesis has rarely been reported

Nephrocalcinosis as a complication of subcutaneous fat necrosis of the newborn

Subcutaneous fat necrosis of the newborn is an uncommon disorder affecting the adipose tissue of term infants. It is usually known as a transient, benign and self-limited disease, characterized by painful skin lesions beginning within the first week of life. The prognosis of the disease is generally good, but it may be complicated by potentially life-threatening metabolic alterations, including hypercalcemia, thrombocytopenia, hypoglycemia, and hypertriglyceridemia. Hypercalcemia is the most serious complication of subcutaneous fat necrosis because of its effects on the renal and cardiovascular systems. We thereby present a case of subcutaneous fat necrosis with all these metabolic alterations, which was also complicated by nephrocalcinosis as a non-transient and serious complication