Cystinosis in adult and adolescent patients: Recommendations for the comprehensive care of cystinosis

Ariceta, Gema; Camacho, Juan Antonio; Fernández-Obispo, Matilde; Fernández-Polo, Aurora; Gámez, Josep; García‐Villoria, Judit; Monteczuma, Enrique Lara; Leyes, Pere; Martín-Begué, Nieves; Oppenheimer, Federico; Perelló, Manel; Pintos-Morell, Guillem; Torrá, Roser; Santandreu, A. Vila; Güell, Ana; T-CiS.bcn, Grupo

doi:10.1016/j.nefroe.2015.06.010

Cited by 19 publications

(19 citation statements)

References 95 publications

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“…Such mutations result in cystine accumulation within cellular lysosomes to crystal-forming levels [ 5 ]. As the disorder progresses, cystine crystal deposition occurs in multiple organs, with the kidneys and eyes being affected first [ 4 , 6 , 7 ]. The prevalence of cystinosis is approximately 1 case in 100,000–200,000 live births, with cases found worldwide in all ethnic groups [ 4 ].…”

Section: Introductionmentioning

confidence: 99%

“…Juvenile NC manifests similar renal symptoms, but progression is typically much slower [ 2 , 6 ], with renal function maintained until patients are in their in fourth decade [ 2 ]. As the disease does not recur in kidney grafts, the therapy of choice in cystinosis patients is renal transplantation [ 6 , 7 ]. Interstitial deposits of cystine crystals, originating from the host mononuclear cells, can be observed following transplantation, but they are not of pathological significance [ 6 , 7 ].…”

Section: Introductionmentioning

confidence: 99%

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Latest Clinical Approaches in the Ocular Management of Cystinosis: A Review of Current Practice and Opinion from the Ophthalmology Cystinosis Forum

et al. 2018

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Cystinosis, a rare autosomal recessive disease caused by intracellular cystine accumulation, occurs in an estimated 1/100,000–200,000 live births. Ocular non-nephropathic cystinosis is typically diagnosed during adulthood, when patients present with corneal crystal deposition and no systemic involvement. Due to the rarity of the condition, diagnosis is often delayed and can have a significant impact on the overall prognosis of the disease. Early diagnosis is therefore imperative to ensure successful treatment and improve quality of life, as most of its clinical manifestations can be prevented or delayed. Early detection strategies and practical approaches for the ocular management of cystinosis were discussed during the Ophthalmology Cystinosis Forum, a 1-day meeting held in Berlin, Germany during June 2017. Recommendations for early detection comprise ophthalmic assessment, including self- and clinician-assessed recording of photophobia, and visual acuity, slit-lamp examination and tonometry ophthalmic examinations. In vivo confocal microscopy and anterior segment optical coherence tomography were highlighted as valuable techniques in evaluating cystine crystals in the cornea, in vivo and non-invasively. The mainstay of ocular cystinosis treatment is the cystine-depleting aminothiol cysteamine. Indeed, early treatment with and strict adherence to cysteamine therapy has a considerable impact on the long-term prognosis of ocular cystinosis. In rare diseases such as ocular cystinosis, standardised guidelines and recommendations for detection, patient care and follow-up assessments are essential. Such guidelines provide a support tool for healthcare professionals caring for ocular cystinosis patients. Multidisciplinary teams (MDTs) are essential for delivering gold standard care and improving quality of life for patients and their families. This review paper highlights current early detection policies, clinical treatment strategies and practical approaches for the ocular management of cystinosis, including implementing a cystinosis MDT. Additionally, discussions of the Ophthalmology Cystinosis Forum held in 2017 are summarised.FundingOrphan Europe.Plain Language SummaryPlain language summary available for this article.

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Latest Clinical Approaches in the Ocular Management of Cystinosis: A Review of Current Practice and Opinion from the Ophthalmology Cystinosis Forum

et al. 2018

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Section: Importance Of Transitionmentioning

confidence: 99%

“…Recommendations for the comprehensive care of cystinosis were made based on the consensus meetings involving multidisciplinary health-care professionals and literature review ( 16 ). These recommendations are based on multidisciplinary team involvement, medication adherence, encouraging patient self-care, and monitoring of polymorphonuclear cystine levels ( 16 ). Recently, same group of researchers proposed coordinated transition model for cystinosis with nephrologist as a key player due to high prevalence of chronic kidney disease among cystinosis patients and need for renal transplantation ( 17 ).…”

Section: Importance Of Transitionmentioning

confidence: 99%

Structured Transition Protocol for Children with Cystinosis

2017

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The transition from pediatric to adult medical services has a greater impact on the care of adolescents or young adults with chronic diseases such as cystinosis. This transition period is a time of psychosocial development and new responsibilities placing these patients at increased risk of non-adherence. This can lead to serious adverse effects such as graft loss and progression of the disease. Our transition protocol will provide patients, families, physicians, and all those involved a structured guide to transitioning cystinosis patients. This structured protocol depends on four areas of competency: Recognition, Insight, Self-reliance, and Establishment of healthy habits (RISE). This protocol has not been tested and therefore challenges not realized. With a focus on medical, social, and educational/vocational aspects, we aim to improve transition for cystinosis patients in all aspects of their lives.

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“…Participants in the comprehensive care group had better self-care ability and less risk of depression [19], suggesting that patients benefit more from the comprehensive care program than from interdisciplinary care and usual care. CC was also applied to patients with cystinosis [20], representing a support tool for health professionals who take care of the patients. An action research project had been designed and evaluated to identified areas of care practice needing further development for patients undergoing vitreoretinal surgery to enhance the recovery [21,22], however, few studies further described the effects of comprehensive care in patients underwent vitrectomy.…”

Section: Introductionmentioning

confidence: 99%

Effects of Comprehensive Care to the Psychological Status and the Eyesight Recovery of the Patients with Vitrectomy

Zhang¹,

Wang²,

Liu³

et al. 2018

J Nurs Care

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Aims and Objectives: To determine the effects of the comprehensive care to the psychological status and the eyesight recovery of the patients with vitrectomy. Background: Vitrectomy is a routine clinical practice which was widely used to treat multiple eye diseases. However, due to the anatomic location of the vitreous body and the operational risk, patients tend to develop psychological disorders, which would negatively affect the therapeutic effects. Design: 84 cases of the patients who had the vitrectomy operation in our hospital during the period of February 2015 to February 2017 were randomly divided into control group (n=42) and experimental group (n=42). The control group accepted the routine care during and after the operation, and the experimental group accepted the comprehensive care in addition to routine care. Methods: The effects of comprehensive care were evaluated by comparing the psychological status of the patients and the extent of the eyesight recovery between the two groups. Results: Both the self-rating anxiety scale (SAS) and the self-rating depressive scale (SDS) of the experimental group are significantly (p<0.01) lower than the control group. The eyesight recovery efficiency in experimental group (92.86%) is significantly higher (p<0.05) than control group (76.19%). The incidence of postoperative complications in experimental group is significantly lower (p<0.05) than control group, and the average length of stay in hospitals in experimental group is significantly shorter (p<0.01) than control group. Conclusions: There were significant beneficial effects of the comprehensive care in patients with vitrectomy. Comprehensive care could effectively improve the psychological statues of the patients and enhance their eyesight recovery. Relevance to clinical practice: Comprehensive care in patients underwent surgery improve patient's recovery and make a difference in disease outcomes. This could potentially be applicable to most of the clinical practices.

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Cystinosis in adult and adolescent patients: Recommendations for the comprehensive care of cystinosis

Cited by 19 publications

References 95 publications

Latest Clinical Approaches in the Ocular Management of Cystinosis: A Review of Current Practice and Opinion from the Ophthalmology Cystinosis Forum

Latest Clinical Approaches in the Ocular Management of Cystinosis: A Review of Current Practice and Opinion from the Ophthalmology Cystinosis Forum

Structured Transition Protocol for Children with Cystinosis

Effects of Comprehensive Care to the Psychological Status and the Eyesight Recovery of the Patients with Vitrectomy

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