Cistinuria
Table of Contents
Definizione
La cistinuria è un disordine ereditario del trasporto di aminoacidi, caratterizzato da un difetto di riassorbimento della cistina e degli aminoacidi dibasici (lisina, arginina e ornitina). La cistinuria si manifesta con un aumento dall’eliminazione di cistina nelle urine e la formazione di calcoli nelle vie urinarie. L’incidenza varia in rapporto in base all’area geografica; a livello mondiale è di 1 caso ogni 7000 nati vivi.
Eziologia
Il difetto del riassorbimento della cistina e degli aminoacidi dibasici (ornitina, arginina, lisina), da parte dei tubuli prossimali, causa un aumento della concentrazione urinaria di queste sostanze; gli amminoacidi dibasici sono solubili nell’urina, ma la cistina precipita nelle urine acide e forma dei calcoli. Sono stati descritti diversi tipi di anomalie dell’assorbimento intestinale di questi aminoacidi. Sono stati descritti tre fenotipi di cistinuria (I,II,III) in base all’ escrezione urinaria di cistina nei genitori eterozigoti e all’assorbimento intestinale nei soggetti affetti omozigoti. Tutti i soggetti affetti cistinurici eliminano nelle urine quantità di cistina maggiori di 250 mg/g di creatininuria (o 1000 µmol/g). I genitori eterozigoti di tipo I presentano una normale cistinuria (<100 µmol/g), mentre in quelli di tipo II e di tipo III si riscontra un’ elevata (da 990 a 1740 µmol/g) o moderata (da 100 a 600 µmol/g) escrezione di aminoacidi.
Sintomatologia
Il primo calcolo può presentarsi anche nei primi mesi di vita; in circa il 90% dei pazienti si presenta entro la seconda decade.
Le manifestazioni cliniche della cistinuria sono quelli della calcolosi urinaria e delle sue complicanze, quali:
- Infezioni delle vie urinarie
- Pielonefrite
- Uropatia ostruttiva
- Insufficienza renale.
La severità di malattia è apparentemente la stessa in tutti i tipi di cistinuria.
Diagnosi
- La diagnosi di cistinuria è basata sull’esame macroscopico delle urine del mattino, che dimostra la presenza di piccoli cristalli esagonali e l’analisi cristallografica dei calcoli di cistina.
- Identificazione della cistina e degli amminoacidi dibasici nelle urine (cromatografia).
- L’ecografia renale è la tecnica di elezione per individuare i calcoli e il follow-up. La diagnosi può essere confermata dai test molecolari.
Terapia
La terapia medica consiste nell’ abbondante ingestione di liquidi e nell’ alcalinizzazione delle urine mediante l’assunzione di bicarbonato o citrato, allo scopo di ridurre la concentrazione della cistina nelle urine e aumentare la solubilità, portando il pH urinario al di sopra di 7,5. La d-penicillamina è stata proposta nelle forme recidivanti ( reazione indesiderata grave nel 50% dei casi). La terapia chirurgica consiste nella litotrissia extracorporea e nella rimozione operatoria dei calcoli.
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