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5 Facts you should know about

Alper’s syndrome



A progressive neurologic disorderone

Alpers syndrome is a progressive neurologic disorder that begins during childhood and is complicated in many instances by serious liver disease.


Most individuals do not show symptoms at birth

Most individuals with Alpers' disease do not show symptoms at birth and develop normally for weeks to years before the onset of symptoms.


Symptoms include

increased muscle tone with exaggerated reflexes (spasticity), seizures, and loss of cognitive ability.


Cystine Stones Are Larger, Harder And Form More Frequently

Distinct from other types of kidney stones, cystine stones are often larger, harder, and occur more frequently. Due to their larger size, cystine stones may be more difficult to pass, often requiring surgical or urological procedures to remove.


Treatment Goals For Cystinuria Include Both Decreasing Urinary Cystine Concentrations And Increasing Cystine Solubility

The goal of treatment in cystinuria is to prevent recurrence of stones by decreasing urinary cystine concentrations to below the solubility limit (generally < 250 mg/L) or increasing the solubility of cystine. According to AUA guidelines, the first approach to treatment of cystinuria is initiation of therapeutic lifestyle changes involving increased fluid intake and restriction of sodium and protein, as well as urinary alkalinization therapy (3). If initial therapy fails to reduce urinary cystine concentrations to less than 250 mg/L or stones recur despite therapy, cystine-binding thiol drugs are the next step in treatment (3). The failure rate of initial therapy (therapeutic lifestyle changes and urinary alkalinization) may be as high as 55% (4).

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