Management of Primary Hyperoxaluria Type 1 in Italy

Abstract

Primary hyperoxaluria type 1 is a rare genetic disease; the onset of symptoms ranges from childhood to the sixth decade of life and the disease may go unrecognized for several years. There is an urgent need for drugs able to inhibit the liver production of oxalate and to prevent the disease progression; lumasiran, an innovative molecule based on RNAi interference, is one of the most promising drugs. A group of leading Italian experts on this disease met to respond to some unmet medical needs (early diagnosis, availability of genetic tests and dosage of plasma oxalate, timing of liver transplantation, need for etiologic treatment), based on the analysis of the main scientific evidence and their personal experience. Children showing the characteristic symptoms of the disease usually undergo a metabolic screening and obtain an early diagnosis, while the experience is very limited in adults and the diagnosis difficult. It is therefore essential to increase the knowledge around this disease and the importance of metabolic and genetic screening to define a checklist of shared clinical and laboratory criteria and to establish a multidisciplinary management of potential patients. Oxalate is the cause of the disease: it is crucial to reduce both oxaluria and oxalemia through appropriate therapeutic strategies, able to prevent and/or reduce renal and systemic complications of primary type 1 hyperoxaluria. Lumasiran allows to significantly reduce the levels of oxalate both in blood and in urine, halting the course of the disease and preventing serious renal and systemic complications, if the therapy is started at an early stage of the disease.

Keywords: primary hyperoxaluria type 1, hyperoxalemia, hyperoxaluria, lumasiran

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Introduzione

L’iperossaluria primitiva tipo 1 (PH1) è una malattia genetica autosomica recessiva ultra-rara, con una prevalenza stimata di 1-3 casi per milione di popolazione e un’incidenza di circa 1 caso ogni 120.000 nati in Europa, ed è responsabile dell’1-2% dei casi di insufficienza renale terminale (ESKD) pediatrici [12].

La PH1 è causata da mutazioni nel gene AGXT che codifica per l’enzima epatico L-alanina-gliossilato amino transferasi (AGT), il quale catalizza la conversione di gliossilato a glicina. Si tratta quindi di un difetto metabolico epatico. Quando l’attività della AGT è assente, il gliossilato viene trasformato in ossalato, la cui iperproduzione determina aumento dei livelli ematici di ossalato ed iperossaluria aumentando il rischio di nefrolitiasi (figura 1) [2].

 

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Recurrent Kidney Stones in a patient with Malabsorption Syndrome

Abstract

Enteric hyperoxaluria is one of the most frequent complications of bariatric surgery. In this setting the prevalence of kidney stones is increased. Currently the treatment of enteric hyperoxaluria is based not only on the reduction of urinary oxalate but even controlling other lithogenic risk factors, like urinary volume and urinary citrate levels.

This case report suggests a possible benefit using magnesium citrate in addition to calcium supplementation, in the treatment of hyperoxaluria caused by enteric malabsorption.

 

Keywords: kidney stones, hyperoxaluria, magnesium citrate

Sorry, this entry is only available in Italian. For the sake of viewer convenience, the content is shown below in the alternative language. You may click the link to switch the active language.

INTRODUZIONE

L’ossalato è un prodotto di scarto del metabolismo, generato da una varietà di precursori. Approssimativamente il 50-60% di esso è prodotto endogenamente, la restante quota proviene dall’intake dietetico (1).

 

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