Cistinosis en pacientes adolescentes y adultos: Recomendaciones para la atención integral de la cistinosis

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.nefro.2015.05.019

Cited by 18 publications

(12 citation statements)

References 98 publications

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“…It is difficult to decide whether this combination of therapies can directly explain a better renal survival or whether these therapies are only an indirect marker of a closer follow-up, since adherence to treatment is an important issue regarding morbidity in DeN, and is specifically critical in teenagers. Ariceta et al reported that children older than 11 years of age and adults were dramatically less compliant, only half of them reporting to always follow prescription [36]; as such, these authors proposed recommendations for a comprehensive care of nephropathic cystinosis [37]. …”

Section: Discussionmentioning

confidence: 99%

Worldwide view of nephropathic cystinosis: results from a survey from 30 countries

et al. 2017

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Background: Nephropathic cystinosis is a rare inherited metabolic disorder leading to progressive renal failure and extra-renal comorbidity. The prognosis relies on early adherence to cysteamine treatment and symptomatic therapies. Developing nations [DiN] experience many challenges for management of cystinosis. The aim of this study was to assess the management characteristics in DiN compared with developed nations [DeN]. Methods: A questionnaire was sent between April 2010 and May 2011 to 87 members of the International Pediatric Nephrology Association, in 50 countries. Results: A total of 213 patients were included from 41 centres in 30 nations (109 from 17 DiN and 104 from 13 DeN). 7% of DiN patients died at a median age of 5 years whereas no death was observed in DeN. DiN patients were older at the time of diagnosis. In DiN, leukocyte cystine measurement was only available in selected cases for diagnosis but never for continuous monitoring. More patients had reached end-stage renal disease in DiN (53.2 vs. 37.9%, p = 0.03), within a shorter time of evolution (8 vs. 10 yrs., p = 0.0008). The earlier the cysteamine treatment, the better the renal outcome, since the median renal survival increased up to 16.1 [12.5−/] yrs. in patients from DeN treated before the age of 2.5 years of age (p = 0.0001). However, the renal survival was not statistically different between DeN and DiN when patients initiated cysteamine after 2.5 years of age. The number of transplantations and the time from onset of ESRD to transplantation were not different in DeN and DiN. More patients were kept under maintenance dialysis in DiN (26% vs.19%, p = 0.02); 79% of patients from DiN vs. 45% in DeN underwent peritoneal dialysis. Conclusions: Major discrepancies between DiN and DeN in the management of nephropathic cystinosis remain a current concern for many patients living in countries with limited financial resources.

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Section: Discussionmentioning

confidence: 99%

Worldwide view of nephropathic cystinosis: results from a survey from 30 countries

et al. 2017

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“…Usually the diagnosis is made shortly after the onset of the symptoms but some delay may occur due to the low specificity of the symptoms. From those 32 patients suspected, 11 had an Open Journal of Genetics intra-leukocytes cystine value below 0.5 nmol 1/2 cystine/mg protein in two successive samples [4] and they were considered negative for cystinosis and other causes were investigated. In the remaining 21, intra-leukocytes cystine ranging from 0.5 to 8.0 nmol 1/2 cystine/mg protein was confirmed and eleven of these were studied for CTNS gene mutations, four pathogenic reported CTNS mutations were detected, being the common European 57-kb deletion the most frequent (68.2%; 15/22 alleles).…”

Section: Resultsmentioning

confidence: 99%

“…So, it seems that toward to Mediterranean region, the frequency of the 57-kb deletion decreases. Nevertheless, the 57-kb deletion should be the first mutation for looking for in cystinosis patients from Portugal or as well as from Spain [4]. The other mutations; p.S139F as well as the c.18-21delGACT (p.T7FfsX7), have a Spanish founder gene [12], but an interesting fact is that, the deletion c.18-21delGACT (p.T7FfsX7) has been found in different populations from Europe to Middle East, and with widely disease severities.…”

Section: Resultsmentioning

confidence: 99%

“…Cystinosis is the most frequent cause of inherited Fanconi syndrome and should be considered the initial differential diagnosis. Nevertheless, the severity of Fanconi Syndrome associated with cystinosis requires rigorous treatment that is frequently complex [4]. Although the kidneys are initially affected during the first year of life, in most of the cases, other potentially affected organs include also eyes, thyroid, pancreas, gonads, muscles and CNS over time [3] [5].…”

Section: Introductionmentioning

confidence: 99%

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<i>CTNS</i> Molecular Genetics Profile in a Portuguese Cystinosis Population

Ferreira¹,

Leal²,

Sousa³

et al. 2018

OJGen

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Background: Cystinosis is a multisystemic autosomal recessive deficiency of the lysosomal membrane transporter protein (cystinosin) caused by mutations in CTNS gene. Objective: This study summarizes the Portuguese experience in the diagnosis and management of patients with this rare disease over the past few years and reports recurrent mutations in the CTNS gene. Methods: Unrelated patients from different pediatric and adult hospitals all over Portugal with non-nephrotic proteinuria, hypercalciuria, hypokalemia impaired proximal reabsorption of amino acids, glycosuria and hypophosphatemia, suggestive of a Fanconi syndrome and ocular problems, were studied. Intra-leukocyte cystine levels were determined and molecular analysis was performed, to determine the presence or absence of the 57-kb deletion in CTNS, followed by direct sequencing of the coding exons of CTNS. Results: From 1998 to 2017, twenty-one cystinotic patients were biochemically diagnosed. From the remaining seventeen (four deceased), eleven were studied for CTNS gene. Five out of eleven patients were homozygous for the 57-kb deletion (10/22; 45.5%), and other five were compound heterozygous for this variant (15/22; 68.2%). The other mutations found were p.Q128X (c.721 C>T; of these seventeen cystinotic patients are in treatment. Approximately 84% are adults, 16% are young children, and 54.5% are kidney transplant recipient. Conclusions: The authors would like to emphasize the importance of first screening for the 57-kb deletion since it is very common in our population. This genetic study is the first in our country and it could be the basis for future genetic counseling in Portuguese population.

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“…Furthermore, many of the diagnostic tests described in the literature, such as ERG, perimetry and pachymetry, have been outmoded by confocal microscopy and OCT. A 2015 article by a Spanish group in Nefrologia [34] provides excellent general guidelines for the treatment of patients with cystinosis. This article is, however, more focused on the nephrological rather than ophthalmological element and does not provide in-depth ophthalmological guidelines.…”

Section: Discussionmentioning

confidence: 99%

Clinical Practice: A Proposed Standardized Ophthalmological Assessment for Patients with Cystinosis

et al. 2017

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Cystinosis is a rare autosomal recessive disease with an incidence of approximately 1 case per 100,000–200,000 live births. Over the years, gaining in-depth knowledge of the disease has led to vast improvement in patient life expectancy. However, debilitating, extra-renal manifestations such as eye disease, in particular corneal crystal deposition and its associated photophobia, still occur frequently, regardless of patient age and notwithstanding the increased implementation of systemic therapy. Ophthalmological assessment has not yet been standardized. The aim of this article was to provide clear recommendations for ophthalmological assessment during follow-up of patients with cystinosis to improve quality and regularity of ophthalmological care and thereby minimize ophthalmological complications. A literature search was performed to assess previous and current recommendations on examinations to conduct during follow-up of patients with cystinosis. Multidisciplinary cystinosis clinics were set up in collaboration with the Department of Ophthalmology and the Department of Pediatric Nephrology to allow patients to be seen by a nephrologist, an ophthalmologist and other specialists on the same day. Based on the results of these multidisciplinary clinics the standardized clinical ophthalmological assessment was drafted. This is a protocol for follow-up, describing the approach taken regarding ophthalmological follow-up of patients with cystinosis, considering the different types of the disease and the time since diagnosis. Standard examination includes history, visual acuity, tonometry and slit-lamp examination, with fundus photography performed at diagnosis and annually thereafter. Confocal microscopy is the imaging modality of choice, while anterior segment optical coherence tomography (OCT) is a good alternative. Finally, posterior segment OCT for imaging of the macular region and optic nerve should be conducted on an annual basis.

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Cistinosis en pacientes adolescentes y adultos: Recomendaciones para la atención integral de la cistinosis

Cited by 18 publications

References 98 publications

Worldwide view of nephropathic cystinosis: results from a survey from 30 countries

Worldwide view of nephropathic cystinosis: results from a survey from 30 countries

<i>CTNS</i> Molecular Genetics Profile in a Portuguese Cystinosis Population

Clinical Practice: A Proposed Standardized Ophthalmological Assessment for Patients with Cystinosis

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Cistinosis en pacientes adolescentes y adultos: Recomendaciones para la atención integral de la cistinosis

Cited by 18 publications

References 98 publications

Worldwide view of nephropathic cystinosis: results from a survey from 30 countries

Worldwide view of nephropathic cystinosis: results from a survey from 30 countries

&lt;i&gt;CTNS&lt;/i&gt; Molecular Genetics Profile in a Portuguese Cystinosis Population

Clinical Practice: A Proposed Standardized Ophthalmological Assessment for Patients with Cystinosis

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<i>CTNS</i> Molecular Genetics Profile in a Portuguese Cystinosis Population