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
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
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
Nephrolithiasis in children is a painful and costly disease that may also have detrimental long-term effects on kidney function. Recent data provide evidence that the incidence of nephrolithiasis in children is rising. Children who are white, female, and adolescent seem to have the highest risk for forming symptomatic kidney stones. Although the reasons for the … Leggi tutto
Kidney stone disease is an increasingly prevalent condition with remarkable clinical heterogeneity, with regards to stone composition, age of manifestation, rate of recurrence, and impairment of kidney function. Calcium-based kidney stones account for the vast majority of cases, but their etiology is poorly understood, notably their genetic drivers. As recent studies indicate, hereditary conditions are … Leggi tutto
Ossalosi in un caso di PH1
Distal renal tubular acidosis (dRTA) is characterized by an impaired ability of the distal tubule to excrete acid, leading to metabolic acidosis. Associated complications include bone disease, growth failure, urolithiasis and hypokalaemia. Due to its rarity, there is limited evidence to guide diagnosis and management; however, available data strongly suggest that metabolic control of the … Leggi tutto
Idiopathic infantile hypercalcemia (IIH) is characterized by severe hypercalcemia with failure to thrive, vomiting, dehydration, and nephrocalcinosis. Recently, mutations in the vitamin D catabolizing enzyme 25-hydroxyvitamin D3-24-hydroxylase (CYP24A1)weredescribed that lead to increased sensitivity to vitaminD due to accumulation of the active metabolite 1,25-(OH)2D3. In a subgroup of patients who presented in early infancy with renal … Leggi tutto
L’iperossaluria primitiva tipo 1 è una malattia genetica rara; l’esordio dei sintomi varia dall’infanzia alla sesta decade di vita e la malattia può non essere riconosciuta per diversi anni. C’è la necessità di farmaci in grado di inibire la produzione epatica di ossalato e di prevenire la progressione della malattia; uno dei farmaci più promettenti … Leggi tutto
L’iperossaluria primitiva tipo 1 è una malattia genetica rara; l’esordio dei sintomi varia dall’infanzia alla sesta decade di vita e la malattia può non essere riconosciuta per diversi anni. C’è la necessità di farmaci in grado di inibire la produzione epatica di ossalato e di prevenire la progressione della malattia; uno dei farmaci più promettenti … Leggi tutto