ALLMedicine™ Cystinuria Center

Jul 15th, 2021 - D-penicillamine (D-pen) is a copper-chelating drug and has immune-modulatory properties. D-pen is used to treat rheumatoid arthritis, Wilson's disease, and kidney stones (cystinuria). However, associated adverse events (AEs) of D-pen treatment are...

Jun 25th, 2021 - Primary tubulopathies are rare and usually present at pediatric age. Recent advances in genetic diagnosis and treatment have changed its natural history. This study provides the clinical spectrum of a series of primary tubulopathies diagnosed in a...

Jan 10th, 2021 - Cystinuria is the most common cause of inherited stone disease and is caused by the failure of absorption of filtered dibasic amino acids including cystine in the proximal tubules. It is associated with a very high recurrence rate in affected pati...

Dec 23rd, 2020 - Cystinuria is an inherited disorder that results in increased excretion of cystine in the urine. It accounts for about 1-2% of pediatric kidney stones. In this study, we sought to identify the clinical characteristics of patients with cystinuria i...

Nov 11th, 2020 - Cystine stones are widely considered hard and difficult to treat. Hounsfield Units (HU) are used in other stone types to estimate 'hardness' and treatments based on that finding. Our objective was to report mean HU of cystine stones in vivo in a l...

Jan 13th, 2020 - The purpose of this study is to determine the minimum effective dose of the cysteine binding thiol drug (CBTD) Tiopronin on urine cystine capacity, which is a measure of cystine solubility in the urine, in patients with cystinuria to evaluate the ...

Aug 19th, 2019 - This study involves the collection of medical information to create a computer database or registry for patients with PH, Dent disease, cystinuria and APRT deficiency. The information will be entered into the registry by your physician or health c...

Jan 23rd, 2019 - The goal of this research project is to establish that in short-term use, tolvaptan is a safe and potentially effective new therapy for cystinuria, by conducting a short-term pilot study of the safety and tolerability of this drug, and assess impa...

Oct 18th, 2018 - Severe, hereditary forms of nephrolithiasis cause marked excretion of insoluble minerals important in stone formation, including primary hyperoxaluria, cystinuria, Dent disease, and adenine phosphoribosyltransferase deficiency (APRTd). Patients wi...

Apr 5th, 2018 - Cystinuria is a rare genetic cause of kidney stones that leads to significant morbidity due to the recurrent nature of the disease. As a result, a significant part of treatment is focused on prevention of stone formation. Current methods of preven...

Jul 3rd, 2020 - The root causes of recurrent kidney stones can help physicians determine whether dietary changes or medication will be more helpful for at-risk patients, according to Glenn Preminger, MD, professor of urologic surgery at Duke University in Durham,...

Jul 2nd, 2019 - The US Food and Drug Administration (FDA) has approved an enteric-coated delayed-release formulation of tiopronin (Thiola EC, Retrophin) for treatment of cystinuria, a rare inherited disorder that causes an increase in cystine levels in the urine,...

What is the purpose of the Surrogate Endpoint Table? FDA’s surrogate endpoint table provides valuable information for drug developers on endpoints that may be considered and discussed with FDA for individual development programs. This table also f...

Feb 14th, 2007 - Introduction Symptomatic thalamic lesions are more frequently related to stroke, usually causing contralateral sensory symptoms, and less often to contralateral movement disorders. Thalamic lesions leading to movement disorders have been reported ...

Feb 14th, 2007 - Introduction Symptomatic thalamic lesions are more frequently related to stroke, usually causing contralateral sensory symptoms, and less often to contralateral movement disorders. Thalamic lesions leading to movement disorders have been reported ...