Bone mineral density assessment in patients with cystinuria.

Background: Cystinuria is a rare genetic disease characterized by impaired tubular transport of cystine. Clinical features of cystinuria mainly include nephrolithiasis and its complications, although cystinuric patients may present with other comorbidities. There are currently no data on bone features of patients with cystinuria.

A female patient with Dent disease due to skewed X-chromosome inactivation.

X-linked proximal tubulopathies are rare diseases that predominantly affect men. Women are generally carriers and clinical or biochemical manifestations are usually absent or mild. We present the case of a young woman who presented with a full phenotype of Dent disease type 1 due to a de novo mutation in the gene and a skewed X-chromosome inactivation.

Determinants of Kidney Failure in Primary Hyperoxaluria Type 1: Findings of the European Hyperoxaluria Consortium.

Introduction: Primary hyperoxaluria type 1 (PH1) has a highly heterogeneous disease course. Apart from the c.508G>A (p.

Trajectories of Kidney Function in Patients with ATTRv Treated with Gene Silencers.

Hereditary transthyretin amyloidosis (ATTRv; v for "variant") is the most common form of hereditary amyloidosis, with an autosomal dominant inheritance and a variable penetrance. This disease has a significant variability in clinical presentation and multiorgan involvement. While kidney involvement in early-onset ATTRv has been reported in one-third of patients, in late-onset ATTRv it has generally been considered rare.

Unravelling the Complex Relationship between Diet and Nephrolithiasis: The Role of Nutrigenomics and Nutrigenetics.

Nephrolithiasis is an increasingly prevalent condition, especially in high income countries, and is associated with high morbidity. Extraordinary progress in genetics made the identification of genetic forms of nephrolithiasis possible. These genetic diseases are usually rare and do not account for the most common forms of nephrolithiasis that are the result of several factors such as environment, dietary habits, and predisposing genes.

Lumasiran in the Management of Patients with Primary Hyperoxaluria Type 1: From Bench to Bedside.

Primary hyperoxaluria (PH) is a rare genetic disease caused by excessive hepatic production and elevated urinary excretion of oxalate that leads to recurrent nephrolithiasis, nephrocalcinosis and, eventually, kidney failure. As glomerular filtration rate declines, oxalate accumulates leading to systemic oxalosis, a debilitating condition with high morbidity and mortality. Although PH is usually diagnosed during infancy, it can present at any age with different phenotypes, ranging from mild symptoms to extremely debilitating manifestations.

Why is diagnosis, investigation, and improved management of kidney stone disease important? Non-pharmacological and pharmacological treatments for nephrolithiasis.

Introduction: Progress in the medical treatment and management of nephrolithiasis has been limited to date and continues to depend on urinary metabolic screening to assess excretion of the main stone constituents, factors determining stone solubility and precipitation, and on dietary and lifestyle recommendations.

Areas Covered: In this review, we try to highlight some of the broader aspects of kidney stone disease in relation to recent epidemiological and pathophysiological findings, and emerging new treatments. Specifically, this review will cover recent evidence on the association between metabolic risk factors and kidney stone disease, dietary risk factors, and dietary interventions to prevent kidney stones, and how genomics, metabolomics, and proteomics may improve diagnosis and treatment of this troublesome, if rarely fatal, condition.

Cystinuria: an update on pathophysiology, genetics, and clinical management.

Cystinuria is the most common genetic cause of nephrolithiasis in children. It is considered a heritable aminoaciduria as the genetic defect affects the reabsorption of cystine and three other amino acids (ornithine, lysine, and arginine) in the renal proximal tubule. Patients affected by this condition have elevated excretion of cystine in the urine, and because of this amino acid's low solubility at normal urine pH, patients tend to form cystine calculi.

Renal Involvement in Hereditary Transthyretin Amyloidosis: An Italian Single-Centre Experience.

Objective: Hereditary transthyretin amyloidosis (ATTRv) represents a diagnostic challenge considering the great variability of clinical presentation and multiorgan involvement. In the present study, we report the prevalence of kidney involvement and kidney function over time in a cohort of ATTRv patients with different transthyretin gene mutations.

Patients And Methods: For this study, we systematically collected data from all patients with a diagnosis of ATTRv followed at the Neurology Unit of Fondazione Policlinico Universitario A.

Management of the kidney transplant patient with Cancer: Report from a Multidisciplinary Consensus Conference.

Introduction: Cancer is the second most common cause of mortality and morbidity in Kidney Transplant Recipients (KTRs). Immunosuppression can influence the efficacy of cancer treatment and modification of the immunosuppressive regimen may restore anti-neoplastic immune responses improving oncologic prognosis. However, patients and transplant physicians are usually reluctant to modify immunosuppression, fearing rejection and potential graft loss.

Results of a Gene Panel Approach in a Cohort of Patients with Incomplete Distal Renal Tubular Acidosis and Nephrolithiasis.

Background: Distal renal tubular acidosis (dRTA) is characterized by an impairment of urinary acidification resulting in metabolic acidosis, hypokalemia, and inappropriately elevated urine pH. If not treated, this chronic condition eventually leads to nephrocalcinosis, nephrolithiasis, impaired renal function, and bone demineralization. dRTA is a well-defined entity that can be diagnosed by genetic testing of 5 genes known to be disease-causative.

COVID-19 pandemic, the scarcity of medical resources, community-centred medicine and discrimination against persons with disabilities.

This research aims to examine access to medical treatment during the COVID-19 pandemic for people living with disabilities. During the COVID-19 pandemic, the practical and ethical problems of allocating limited medical resources such as intensive care unit beds and ventilators became critical. Although different countries have proposed different guidelines to manage this emergency, these proposed criteria do not sufficiently consider people living with disabilities.

α-lipoic acid in patients with autosomal dominant polycystic kidney disease.

Objectives: Autosomal dominant polycystic kidney disease (ADPKD) is the most common genetic kidney disease characterized by multiple and bilateral cystic dilation of renal tubules. Hypertension, endothelial dysfunction, systemic inflammation, and accelerated atherosclerosis are alterations found at a very early stage of the disease and are responsible for increasing both cardiovascular risks and progression toward end-stage renal disease. The aim of the study was to evaluate the effects of the use of 1.

[Day of Prevention of Renal Diseases in Amatrice, Italy].

Chronic kidney disease (CKD) is a very common condition and its prevalence is increasing worldwide. The CARHES study in Italy showed a prevalence of 6.5% in women and 7.