review

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

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

ABC’s of medical management of STONES.

This publication is printed and distributed  for educational purposes by  MISSION PHARMACAL COMPANY  San Antonio, TX 78230-1355 Acknowledgment is made to  the following people for expert guidance  on the development of this booklet 0 0 0 0

Iter diagnostico e terapia della calcolosi

La nefrolitiasi è una malattia diffusa nella popolazione generale con una prevalenza in aumento negli ultimi anni. La sua rilevanza clinica è gravata dalla tendenza a recidivare comportando così un rischio aggiuntivo di complicanze sia renali (fino alla malattia renale cronica) che extrarenali (come la malattia metabolica dell’osso). D’altra parte l’inquadramento clinico della malattia può … Leggi tutto

Genetic Hypercalciuria

Hypercalciuria is an important, identifiable, and reversible risk factor in stone formation. The foremost and most fundamental step in dissecting the genetics of hypercalciuria is understanding its pathophysiology. Hypercalciuria is a complex trait. This article outlines the various factors that compromise the attempt to dissect the genetics of hypercalciuria, summarizes the clinical and experimental monogenic … Leggi tutto

2 – Nephrocalcinosis and urolithiasis in children Kidney International (2012) 82, 493–497; doi:10.1038/ki.2012.142

Correction to: Kidney International (2011) 80:1278–1291; doi:10.1038/ki.2011.336 In the above-cited article, Table 2 was published with incorrect alignment of age ranges and erroneous unit changes concerning the cystine and urate excretion levels. The urate gram units needed to be multiplied by 10. In Table 1, the diagnosis related to NPT2a mutations should read ‘Urolithiasis, osteoporosis, … Leggi tutto

Nephrocalcinosis and urolithiasis in children

The incidence of adult urolithiasis has increased significantly in industrialized countries over the past decades. Sound incidence rates are not available for children, nor are they known for nephrocalcinosis, which can appear as a single entity or together with urolithiasis. In contrast to the adult kidney stone patient, where environmental factors are the main cause, … Leggi tutto