REVIEW

The Acute and Long-Term Adverse Effects of Shock Wave Lithotripsy

Shock wave lithotripsy (SWL) has proven to be a highly effective treatment for the removal of kidney stones. Shock waves (SWs) can be used to break most stone types, and because lithotripsy is the only noninvasive treatment for urinary stones, SWL is particularly attractive. On the downside SWL can cause vascular trauma to the kidney … Leggi tutto

High-throughput sequencing contributes to the diagnosis of tubulopathies and familial hypercalcemia hypocalciuria in adults

Hereditary tubulopathies are rare diseases with unknown prevalence in adults. Often diagnosed in childhood, hereditary tubulopathies can nevertheless be evoked in adults. Precise diagnosis can be difficult or delayed due to insidious development of symptoms, comorbidities and polypharmacy. Here we evaluated the diagnostic value of a specific panel of known genes implicated in tubulopathies in … Leggi tutto

CYP24A1 and SLC34A1 genetic defects associated with idiopathic infantile hypercalcemia: from genotype to phenotype

Loss of function mutations in the CYP24A1 gene, involved in vitamin D catabolism and in calcium homeostasis, are known to be the genetic drivers of both idiopathic infantile hypercalcemia (IIH) and adult renal stone disease. Recently, also defects in the SLC34A1 gene, encoding for the renal sodium-phosphate transporter NaPi-IIa, were associated with the disease. IIH … Leggi tutto

Nephrolithiasis-associated bone disease: pathogenesis and treatment options

Nephrolithiasis remains a formidable health problem in the United States and worldwide. A very important butunderaddressed area in nephrolithiasis is the accompanying bone disease. Epidemiologic studies have shown that osteoporotic fractures occur more frequently in patients with nephrolithiasis than in the general population. Decreased bone mineral density and defects in bone remodeling are commonly encountered … Leggi tutto

Hypercalcemia in Pregnancy Due to CYP24A1 Mutations: Case Report and Review of the Literature

Pathogenic mutations of CYP24A1 lead to an impaired catabolism of vitamin D metabolites and should be considered in the differential diagnosis of hypercalcemia with low parathyroid hormone concentrations. Diagnosis is based on a reduced 24,25-dihydroxyvitamin D to 25-hydroxyvitamin D ratio and confirmed by genetic analyses. Pregnancy is associated with an upregulation of the active vitamin … Leggi tutto

Altered Serum Uric Acid Levels in Kidney Disorders

Serum uric acid levels are altered by kidney disorders because the kidneys play a dominant role in uric acid excretion. Here, major kidney disorders which accompany hyperuricemia or hypouricemia, including their pathophysiology, are discussed. Chronic kidney disease (CKD) and hyperuricemia are frequently associated, but recent clinical trials have not supported the pathogenic roles of hyperuricemia … Leggi tutto

Calcium and Vitamin D Supplementation and Their Association with Kidney Stone Disease: A Narrative Review

Abstract: Kidney stone disease is a multifactorial condition influenced by both genetic predispositionand environmental factors such as lifestyle and dietary habits. Although different monogenic polymorphismshave been proposed as playing a causal role for calcium nephrolithiasis, the prevalenceof these mutations in the general population and their complete pathogenetic pathway is yet tobe determined. General dietary advice … Leggi tutto

Percorso diagnostico-terapeutico per il paziente con calcolosi renale: update 2020

La storia naturale della calcolosi urinaria è quella di una patologia che tende a recidivare e che può associarsi ad aumentato rischio di malattia renale cronica, ossea e cardiovascolare. Per questo una ampia valutazione clinico-metabolica del paziente è di grande importanza sin dalla prima presentazione della calcolosi, allo scopo di impostare un appropriato trattamento preventivo. … Leggi tutto

Epistasi

L’epistasi è una forma di interazione fra geni. Il fenomeno si verifica quando una coppia di alleli copre l’espressione fenotipica di un’altra coppia di alleli. Le caratteristiche fenotipiche dell’individuo saranno pertanto date dalla risultante di questa interazione; il gene che maschera l’espressione di un altro gene viene definito epistatico, il gene la cui espressione viene mascherata viene definito ipostatico [1]. … Leggi tutto