The Long-Term Outcome of Cystinuria in Japan

Akakura, Koichiro; Egoshi, Ken-ichi; Ueda, Takeshi; Nozumi, Kuniyoshi; Kotake, T; Masai, Motoyuki; Itô, Haruo

doi:10.1159/000030294

Cited by 27 publications

(18 citation statements)

References 16 publications

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“…The incidence of penicillamine toxicity in our study is much lower than that reported in other series of cystinuria patients8, 11, 14, 15, including a study of Japanese children12. The reasons for the difference may be multi-factorial, perhaps involving genetic variation among the populations studied.…”

Section: Discussioncontrasting

confidence: 73%

Penicillamine Therapy for Pediatric Cystinuria: Experience From a Cohort of American Children

2008

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PURPOSE Cystinuria, an inherited defect of dibasic amino acid transport, causes accumulation of urinary cystine and cystine urolithiasis. In adults, penicillamine reduces stone formation but has a high incidence of dose-limiting toxicity. We sought to evaluate the effects of penicillamine in preventing stone formation and on toxicity in our cystinuria cohort at a Pediatric Biochemical Genetics clinic. MATERIALS AND METHODS We reviewed charts from all 11 cystinuric children treated in our clinic using a gradual dose escalation of penicillamine (mean age at diagnosis ± SD: 5.8 ± 4.3 years; range: 1.2 - 12 years). We tracked urinary cystine concentration prior to and after initiation of treatment, penicillamine side effects, and incidence of new stones while on maintenance therapy. RESULTS During the gradual escalation of penicillamine to the target dose, none of the 11 patients experienced toxicity, and all had improved urinary cystine concentration (mean % reduction ± SD: 54 ± 25%; range: 5 - 81%). We followed the patients for a total of 1203 months (mean duration ± SD: 109 ± 73 months; range 41-221 months), periodically assessing urinary cystine concentration, urine protein content, complete blood count, blood urea nitrogen, creatinine and liver function. During this time, only two patients experienced significant side effects and no patients developed stones or stone crises while compliant with treatment. CONCLUSIONS In our cohort, penicillamine was well-tolerated after gradual initiation and it reduced urinary cystine concentration. Long-term compliance with the medication appeared to protect patients from acute stone crises.

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Section: Discussioncontrasting

confidence: 73%

Penicillamine Therapy for Pediatric Cystinuria: Experience From a Cohort of American Children

2008

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“…As recurrent stone formation is frequently observed in cystinuria patients, medical prophylaxis is highly recommended. 289 Cystine is poorly soluble at urine pH <7.0, and stone formation occurs when urinary cystine concentration is >250 mg/ dL. 290 Fluid intake should reach at least 4-5 L/day for adult patients to achieve a urinary cystine concentration <250 mg/ dL.…”

Section: Commentarymentioning

confidence: 99%

The Urological Association of Asia clinical guideline for urinary stone disease

et al. 2019

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The Urological Association of Asia, consisting of 25 member associations and one affiliated member since its foundation in 1990, has planned to develop Asian guidelines for all urological fields. The field of stone diseases is the third of its guideline projects. Because of the different climates, and social, economic and ethnic environments, the clinical practice for urinary stone diseases widely varies among the Asian countries. The committee members of the Urological Association of Asia on the clinical guidelines for urinary stone disease carried out a surveillance study to better understand the diversity of the treatment strategy among different regions and subsequent systematic literature review through PubMed and MEDLINE database between 1966 and 2017. Levels of evidence and grades of recommendation for each management were decided according to the relevant strategy. Each clinical question and answer were thoroughly reviewed and discussed by all committee members and their colleagues, with suggestions from expert representatives of the American Urological Association and European Association of Urology. However, we focused on the pragmatic care of patients and our own evidence throughout Asia, which included recent surgical trends, such as miniaturized percutaneous nephrolithotomy and endoscopic combined intrarenal surgery. This guideline covers all fields of stone diseases, from etiology to recurrence prevention. Here, we present a short summary of the first version of the guideline – consisting 43 clinical questions – and overview its key practical issues.

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“…In all, CBTs were prescribed for 55.3% of our patients. The percentage of patients treated with CBTs varies in other smaller series from 23% to 90% [10,12,21,24,25,[35][36][37][38], but in series with a large number of patients, the percentage is frequently > 50% [10,12,35] except in one study (34%) [21]. More patients experienced at least one AE during Dpenicillamine in comparison with tiopronin, but the difference was not significant.…”

Section: Discussionmentioning

confidence: 98%

Adverse events associated with currently used medical treatments for cystinuria and treatment goals: results from a series of 442 patients in France

et al. 2019

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Objective To evaluate medical treatments, in terms of adverse events (AEs) and therapeutic goals, in a large series of patients with cystinuria. Patients and Methods Data from 442 patients with cystinuria were recorded retrospectively. Crystalluria was studied in 89 patients. A mixed‐effects logistic regression model was used to estimate how urine pH, specific gravity and cysteine‐binding thiols (CBT) correlate with risk of cystine crystalluria. Results Alkalizing agents and CBT agents were given to 88.8% (n = 381) and 55.3% (n = 238) of patients, respectively. Gastrointestinal AEs were reported in 12.3%, 10.4% and 2.6% of patients treated with potassium bicarbonate, potassium citrate and sodium bicarbonate, respectively (P = 0.008). The percentages of patients who experienced at least one AE with tiopronin (24.6%) and with D‐penicillamine (29.5%) were similar (P = 0.45). Increasing urine pH and decreasing urine specific gravity significantly reduced the risk of cystine crystalluria, whereas D‐penicillamine and tiopronin treatments did not reduce this risk (odds ratio [OR] 1 for pH ≤6.5; OR 0.52 [95% confidence interval {95% CI} 0.28–0.95] for 7.0 8.0, P <0.001). Conclusion Adverse events were frequent with D‐penicillamine and tiopronin. Alkaline hyperdiuresis was well tolerated and reduced cystine crystalluria. Urine specific gravity ≤1.005 and urine pH >7.5, while warning about calcium‐phosphate crystallization, should be the goals of medical therapy.

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The Long-Term Outcome of Cystinuria in Japan

Cited by 27 publications

References 16 publications

Penicillamine Therapy for Pediatric Cystinuria: Experience From a Cohort of American Children

Penicillamine Therapy for Pediatric Cystinuria: Experience From a Cohort of American Children

The Urological Association of Asia clinical guideline for urinary stone disease

Adverse events associated with currently used medical treatments for cystinuria and treatment goals: results from a series of 442 patients in France

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