famigliarità

Chronic hypercalcaemia from inactivating mutations of vitamin D 24-hydroxylase (CYP24A1): implications for mineral metabolism changes in chronic renal failure

Loss-of-function mutations of vitamin D-24 hydroxylase have recently been recognized as a cause of hypercalcaemia and nephrocalcinosis/nephrolithiasis in infants and adults. True prevalence and natural history of this condition are still to be defined.  … Probands had recurrent nephrolithiasis, chronic hypercalcaemia with depressed parathyroid hormone (PTH) and increased 1,25(OH)2D levels; carriers had nephrolithiasis (two of … Leggi tutto

Update on Hereditary Kidney Stone Disease and Introduction of a New Clinical Patient Registry in Germany

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

Distal renal tubular acidosis: ERKNet/ESPN clinical practice points

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

Autosomal-Recessive Mutations in SLC34A1 Encoding Sodium-Phosphate Cotransporter 2A Cause Idiopathic Infantile Hypercalcemia

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

Gestione dell’Iperossaluria Primitiva tipo 1 in Italia

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

Classical and Modern Genetic Approach to Kidney Stone Disease

Heritability estimation by twin study remains a relevant reference for modern genetic studies. The overall analysis of loci associated with nephrolithiasis combined with findings of lifestyle analysis and epigenomic investigation may provide stone-risk parameters useful for the clinical evaluation of patients by also taking into account gender variability. 0

Gestione dell’Iperossaluria Primitiva tipo 1 in Italia

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

Genetic defects underlying renal stone disease

Renal stones are common and are usually secondary to risk factors affecting the solubility of substances in the urinary tract. Primary, that is genetic, causes are rare but nevertheless are important to recognise so that appropriate treatments can be instigated and the risks to other family members acknowledged. A brief overview of the investigation of … Leggi tutto

Perspectives in primary hyperoxaluria — historical, current and future clinical interventions

Primary hyperoxalurias are a devastating family of diseases leading to multisystem oxalate deposition, nephrolithiasis, nephrocalcinosis and end-stage renal disease. Traditional treatment paradigms are limited to conservative management, dialysis and combined transplantation of the kidney and liver, of which the liver is the primary source of oxalate production. However, transplantation is associated with many potential complications, … Leggi tutto