Orsini Specialty Pharmacy is proud to offer patients with severe homozygous cystinuria the first available generic version of THIOLA® (tiopronin). The treatment, a reducing and complexing thiol, is indicated for and is used in combination with high fluid intake, alkali, and diet modification, to prevent cystine stone formation in severe homozygous cystinuria patients nine years and older who are not responsive to these measures alone. For more information about tiopronin, please see the Full Prescribing Information.
Causes of Cystinuria
Cystinuria, a rare, inherited disease affecting approximately one in 10,000 Americans, is caused by mutations in the SLC3A1 and SLC7A9 genes. As an autosomal recessive disorder, cystinuria is inherited only when both parents are carriers of the rare genes, and both pass it on. It is characterized by a lack of specific proteins that help remove cystine from the urine. As the kidneys filter blood to create urine, the amino acid cystine is usually absorbed back into the bloodstream. People with cystinuria cannot properly reabsorb cystine into their bloodstream, which causes it to accumulate in their urine, resulting in cystine crystals and/or stones in the kidneys or bladder.
Signs and Symptoms of Cystinuria
Cystinuria is a lifelong condition, and symptoms typically first occur in young adults. The initial symptom is usually sharp pain in the lower back or side of the abdomen. Other symptoms include blood in the urine, obstruction, and/or urinary tract infections. People with cystinuria typically produce small, jagged stones that may be accompanied by yellowish-brown hexagonal crystals.
Treatment of Cystinuria
In addition to tiopronin, treatment for cystinuria focuses on reducing the concentration of cystine in the urine by:
- Consuming large amounts of fluid both day and night to maintain a high volume of urine
- Making the urine more alkaline with prescription drugs that include potassium citrate and acetazolamide
- Following a diet that limits salt and animal proteins
“The entire team at Orsini is devoted to meeting the individual needs of patients and their families by providing exceptional care,” said Mike Fieri, Orsini Founder and CEO. “High touch care coordination and collaboration drive our unique pharmacy care model, and we are honored to help patients with severe homozygous cystinuria benefit from this treatment.”
About Orsini Specialty Pharmacy
Providing patients with comprehensive and compassionate care since 1987, Orsini is the leading independent specialty pharmacy focused on rare diseases, gene therapies, and complex conditions. Orsini’s high-touch care model is centered around experienced, therapy-specific care teams that provide personalized care to patients based on their specific conditions and treatments. The company’s comprehensive solutions include medication adherence programs, data analytics, customized manufacturer programs, and nationwide nursing coverage for convenient in-home infusion services. Headquartered in Elk Grove Village, IL, Orsini Specialty Pharmacy holds accreditations with URAC, the Accreditation Commission for Health Care (ACHC), ACHC’s Distinction in Rare Diseases and Orphan Drugs, The Joint Commission, and the National Association of Boards of Pharmacy (NABP).
For more information about Orsini’s services, contact us at (847) 734-7373 ext. 505, e-mail us at orsini@orsinihc.com or visit www.orsini.com/.