Background: Molecular analysis in patients with nephrolithiasis (NL) and/or nephrocalcinosis (NC) enables more accurate evaluation of underlying etiologies. The existing clinical evidence regarding genetic testing in adults with NL comprises only a few cohort studies. Materials and Methods: We retrospectively analyzed 49 adult patients diagnosed with NL and/or NC from a single center, on whom we performed a genetic test using a nephrolithiasis panel. We reviewed the phenotype of the patients and compared the cases with positive and negative molecular diagnosis. Results: In total, 49 adult patients with NL and/or NC underwent genetic testing. Of the tested patients, 29 (59.2%) patients had 24 abnormal variants in 14 genes. Mendelian diseases were diagnosed in 14 (28.6%) cases: cystinuria (SLC3A1, SLC7A9; n = 4), hereditary distal renal tubular acidosis (SLC4A1; n = 3), Dent disease (CLCN5; n = 2), familial hypomagnesaemia with hypercalciuria and nephrocalcinosis (CLDN16; n = 1), infantile hypercalcemia type 1 (CYP24A1; n = 1), primary hyperoxaluria type 1 (AGXT; n = 1), Bartter syndrome type 2 (KCNJ1; n = 1), and autosomal dominant tubulointerstitial kidney disease (UMOD; n = 1). Eight (16.3%) patients had pathogenic or likely pathogenic monoallelic variants as predisposing factors for NL and/or NC, and seven (14.3%) had biallelic or monoallelic variants of uncertain significance. Patients with positive genetic tests had a lower estimated glomerular filtration rate (p = 0.03) and more frequent NL associated with NC (p = 0.007) and were unlikely to have arterial hypertension (p = 0.03) when compared with patients with negative tests. Conclusions: Our study shows an increased effectiveness of molecular diagnosis and highlights the benefits of genetic testing. NL associated with NC and the presence of chronic kidney disease are the characteristics that should prompt the clinician to suspect an inherited form of NL and/or NC.

Background: Molecular analysis in patients with nephrolithiasis (NL) and/or nephrocalcinosis (NC) enables an accurate evaluation. The existing clinical evidence regarding genetic testing in adults with NL is comprised of only a few cohort studies. Materials and methods: We retrospectively analyzed 49 adult patients diagnosed with NL and/or NC from a single center, on whom we performed a genetic test using a nephrolithiasis panel. We reviewed the phenotype of the patients and compared the cases with positive and negative molecular diagnosis. Results: 49 adult patients with NL and/or NC underwent genetic testing. Of the tested patients, 29 (59.2%) patients had 24 abnormal variants in 14 genes. Mendelian diseases were diagnosed in 14 (28.6%) cases: cystinuria (SLC3A1, SLC7A9; n=4), hereditary distal renal tubular acidosis (SLC4A1; n=3), Dent disease (CLCN5; n=2), familial hypomagnesaemia with hypercalciuria and nephrocalcinosis (CLDN16; n=1), infantile hypercalcemia type 1 (CYP24A1; n=1), primary hyperoxaluria type 1 (AGXT; n=1), Bartter syndrome type 2 (KCNJ1; n=1) and autosomal dominant tubulointerstitial kidney disease (UMOD; n=1); 8 (16.3%) patients had pathogenic or likely pathogenic monoallelic variants as predisposing factors for NL and/or NC, and 7 (14.3%) had biallelic or monoallelic variants of uncertain significance (VUS). Patients with positive genetic tests had a lower estimated glomerular filtration rate (p=0.03), had more frequently NL associated with NC (p=0.007), and were unlikely to have arterial hypertension (p=0.03) when compared with patients with negative test. Conclusions: Our study shows an increased effectiveness of molecular diagnosis and highlights the benefits of genetic testing. NL associated with NC and the presence of chronic kidney disease are the characteristics that should prompt the clinician to suspect an inherited form of NL and/or NC.

Introduction and Aims: Growth failure is a common complication in children with End Stage Renal Disease (ESRD) either on Hemodialysis (HD) or on Peritoneal Dialysis (PD). The aim was to observe the correlation between Body Mass Index (BMI) and Dialysis Vintage in children on Renal Replacement Therapy (RRT).

Introduction and Aims: Cardiovascular involvement remains one of the leading causes of morbidity and mortality in children with Chronic Kidney Disease on Renal Replacement Therapy. Left ventricular hypertrophy, aortic calcifications, arterial stiffness, hypertension and fluid overload have been recognized as important risk factors for sudden death in pediatric patients with end-stage renal disease. This study is designed to assess the relationship between the End Stage Renal Disease and Left Ventricular Mass and Diastolic Dysfunction.