Cystinuria: An Overview of Challenges and Surgical Management

Clark, Calum; Gnanappiragasam, Sanjith; Thomas, Kay; Bultitude, Matthew

doi:10.3389/fsurg.2022.812226

Cited by 4 publications

(3 citation statements)

References 47 publications

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“…Prot-Bertoye et al showed that CKD progression in cystinuria patients is associated with age, hypertension, and severe renal parenchyma damage [19]. Therefore, one important component of treating cystinuria is to prevent an increase in stone burden, thereby reducing the number of urological interventions and damage to renal parenchyma [20,21]. At our institution, tiopronin was prescribed first if the patient had a high stone burden and frequent recurrences.…”

Section: Discussionmentioning

confidence: 95%

Clinical Course and Mutational Analysis of Patients with Cystine Stone: A Single-Center Experience

Jeong,

Oh,

Sohn

et al. 2023

Biomedicines

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Cystinuria is a known genetic disorder. To date, two genes, SLC3A1 and SLC7A9, have been identified as causes of cystinuria. In this study of 10 patients with cystinuria, which is the largest Korean cohort ever studied, we examined the patients’ phenotypes, clinical courses, and genetic analyses. A total of 10 patients with cystinuria diagnosed with cystine stones in a single tertiary medical center (Severance Hospital, Seoul, Republic of Korea) from April 2000 to July 2023 were included in the study. All of the patients participated in mutational studies, and the clinical presentation and consecutive laboratory findings of the patients were analyzed retrospectively. After the initial stone-related surgery or procedure at our hospital, 6 of the 10 patients underwent additional surgery at least once for recurrent stones. Genetic analyses identified six new mutations, of which only two patients had type B mutations. The most common genotype was compound heterozygous type A. We investigated the genotypes and clinical courses of 10 Korean patients with cystinuria who had not been previously reported. More data are needed to statistically analyze the genotype and phenotype of cystinuria.

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Section: Discussionmentioning

confidence: 95%

Clinical Course and Mutational Analysis of Patients with Cystine Stone: A Single-Center Experience

Jeong,

Oh,

Sohn

et al. 2023

Biomedicines

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“…The findings of this study are pivotal for the broader future implementation of the p-Tm:YAG in clinical routine, considering that studies found in the literature so far have presented data based on non-human stone lithotripsy models (BegoStone, plaster of paris, gypsum/glass) [ 13 , 14 , 22 ], or if conducted in humans did not investigate laser effects on different human urinary stone compositions [ 16 ]. It is of particular interest to note that the p-Tm:YAG was amenable to lithotripsy of cystine stones, akin to the Ho:YAG and TFL [ 23 ]. One may recall the frequency-doubled double-pulse neodymium:YAG (FREDDY) laser which was originally proposed as a potential technology for lithotripsy in the 1980s, until it was found ineffective at fragmenting cystine stones[ 24 , 25 ].…”

Section: Discussionmentioning

confidence: 99%

Pulsed thulium:YAG laser—ready to dust all urinary stone composition types? Results from a PEARLS analysis

Kwok,

Ventimiglia,

De Coninck

et al. 2023

World J Urol

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Purpose To evaluate whether stone dust can be obtained from all prevailing stone composition types using the novel pulsed thulium:YAG (p-Tm:YAG), including analysis of stone particle size after lithotripsy. Methods Human urinary stones of 7 different compositions were subjected to in vitro lithotripsy using a p-Tm:YAG laser with 270 µm silica core fibers (Thulio®, Dornier MedTech GmbH®, Wessling, Germany). A cumulative energy of 1000 J was applied to each stone using one of three laser settings: 0.1 J × 100 Hz, 0.4 J × 25 Hz and 2.0 J × 5 Hz (average power 10 W). After lithotripsy, larger remnant fragments were separated from stone dust using a previously described method depending on the floating ability of dust particles. Fragments and dust samples were then passed through laboratory sieves to evaluate stone particle count according to a semiquantitative analysis relying on a previous definition of stone dust (i.e., stone particles ≤ 250 µm). Results The p-Tm:YAG laser was able to produce stone dust from lithotripsy up to measured smallest mesh size of 63 µm in all seven stone composition types. Notably, all dust samples from all seven stone types and with all three laser settings had high counts of particles in the size range agreeing with the definition stone dust, i.e., ≤ 250 µm. Conclusion This is the first study in the literature proving the p-Tm:YAG laser capable of dusting all prevailing human urinary stone compositions, with production of dust particles ≤ 250 µm. These findings are pivotal for the broader future implementation of the p-Tm:YAG in clinical routine.

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“…23,55 When stents are inserted, it is recommended that they are in place for no more than two weeks to avert this risk. 23,56 One tertiary centre advocates using stents on strings which can be removed by the patient in 1-3 days. 9…”

Section: Dovepressmentioning

confidence: 99%

Cystine Stones: Developments in Minimally Invasive Surgery and Their Impact on Morbidity and Stone Clearance

Hughes¹,

Tzelves²,

Somani³

2023

RRU

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Cystinuria is a rare genetic condition that is responsible for cystine stones. Besides stone recurrence, patients with cystine stones have reduced health-related quality of life, increased rates of chronic kidney disease and hypertension. Although lifestyle measures, medical therapy and close follow up are essential to reduce and monitor cystine stone recurrences, surgical intervention is frequently needed for most cystinuria patients. Shock wave lithotripsy, ureteroscopy, percutaneous nephrolithotomy and active surveillance all have a role, and technological advances in endourology are vital in achieving a stone-free status and to prevent recurrences. The complexity of managing cystine stones necessitates a multidisciplinary team discussion, patient involvement and an individualised approach in a specialist centre for optimum management. Thulium fibre laser and virtual reality may have an increasing role in the future of cystine stone management.

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Cystinuria: An Overview of Challenges and Surgical Management

Cited by 4 publications

References 47 publications

Clinical Course and Mutational Analysis of Patients with Cystine Stone: A Single-Center Experience

Clinical Course and Mutational Analysis of Patients with Cystine Stone: A Single-Center Experience

Pulsed thulium:YAG laser—ready to dust all urinary stone composition types? Results from a PEARLS analysis

Cystine Stones: Developments in Minimally Invasive Surgery and Their Impact on Morbidity and Stone Clearance

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