A coordinated transition model for patients with cystinosis: from pediatric to adult care

Ariceta, Gema; Camacho, Juan Antonio; Fernández-Obispo, Matilde; Fernández-Polo, Aurora; Gámez, Josep; García‐Villoria, Judit; Lara, Enrique; Leyes, Pere; Martín-Begué, Nieves; Perelló, Manel; Pintos-Morell, Guillem; Torrá, Roser; Torregrosa, José-Vicente; Torres-Sierra, Sandra; Vila‐Santandreu, Anna; Güell, Ana; T-CiS.bcn, Grupo

doi:10.1016/j.nefroe.2016.12.006

Cited by 6 publications

(16 citation statements)

References 44 publications

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“…Young adults with chronic urological conditions are often lost to routine medical care in young adulthood and should receive an appropriate transition because of their risk for CKD [ 21 , 30 , 31 , 32 , 33 , 34 ]. Similarly, other kidney diseases, such as glomerular diseases, tubulopathies, and other rare (hereditary) kidney diseases should be followed and transitioned; however, too often, patients with these conditions are seen by adult caregivers after developing complications [ 35 , 36 , 37 , 38 , 39 , 40 , 41 ]. Obesity and obesity-related hypertension are increasing in adolescents, which can lead to cardiovascular events and CKD earlier in adult life.…”

Section: Discussionmentioning

confidence: 99%

Transition of Chronic Pediatric Nephrological Patients to Adult Care Excluding Patients on Renal Replacement Therapy with Literature Review

2022

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(1) Background: The transition of children with chronic kidney disease to adult care has become a well-handled issue. However, other patients with normal or mildly decreased renal function also requiring further management and transition are neglected. (2) Methods: A questionnaire was sent to patients with kidney pathology, aged 17 years and older. (3) Results: The patients were mostly high-school (55%) or college students (39%), living with their parents (94%). One third did not know how their disease affected their choice of profession and reproductive health. Furthermore, 46% of the respondents did not know who would continue with their care, and 44% still had a primary pediatrician. (4) Conclusions: A review of the literature on the topic was performed and summarized here. Regular education is the key for successful transfer, not only in chronic kidney and transplant patients, but also in others in whom a decline in renal function can be expected in the future.

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Section: Discussionmentioning

confidence: 99%

Transition of Chronic Pediatric Nephrological Patients to Adult Care Excluding Patients on Renal Replacement Therapy with Literature Review

2022

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“…Also, their annual follow-up schedule is, in our opinion, not suited for patients who have recently been diagnosed, because, in our opinion, they need to be seen on a more regular basis. A second article published by this group in 2016 [ 35 ] proposes recommendations to aid the transition of cystinosis patients from pediatric to adult care. In comparison to pediatrics, adult care patients are often seen by different professionals, primarily focused on their own specialty.…”

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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“…The following is recommended regarding the clinical content of the initial assessment carried out as part of the transition process in patients with XLH: A list of clinical data, including potential complications and the established management for the patient [ 5 , 13 , 26 , 27 , 34 ], as follows: Patient identification information. Age at the time of diagnosis.…”

Section: Recommendations (Annex B )mentioning

confidence: 99%

“…A list of clinical data, including potential complications and the established management for the patient [ 5 , 13 , 26 , 27 , 34 ], as follows:…”

Section: Recommendations (Annex B )mentioning

confidence: 99%

Latin-American consensus on the transition into adult life of patients with X-linked hypophosphatemia

Kastelic,

Roman-González,

De Paula Colares Neto

et al. 2023

Endocrine

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Introduction X-linked hypophosphatemia is an orphan disease of genetic origin and multisystem involvement. It is characterized by a mutation of the PHEX gene which results in excess FGF23 production, with abnormal renal and intestinal phosphorus metabolism, hypophosphatemia and osteomalacia secondary to chronic renal excretion of phosphate. Clinical manifestations include hypophosphatemic rickets leading to growth abnormalities and osteomalacia, myopathy, bone pain and dental abscesses. The transition of these patients to adult life continues to pose challenges to health systems, medical practitioners, patients and families. For this reason, the aim of this consensus is to provide a set of recommendations to facilitate this process and ensure adequate management and follow-up, as well as the quality of life for patients with X-linked hypophosphatemia as they transition to adult life. Materials and Methods Eight Latin American experts on the subject participated in the consensus and two of them were appointed as coordinators. The consensus work was done in accordance with the nominal group technique in 6 phases: (1) question standardization, (2) definition of the maximum number of choices, (3) production of individual solutions or answers, (4) individual question review, (5) analysis and synthesis of the information and (6) synchronic meetings for clarification and voting. An agreement was determined to exist with 80% votes in favor in three voting cycles. Results and Discussion Transition to adult life in patients with hypophosphatemia is a complex process that requires a comprehensive approach, taking into consideration medical interventions and associated care, but also the psychosocial components of adult life and the participation of multiple stakeholders to ensure a successful process. The consensus proposes a total of 33 recommendations based on the evidence and the knowledge and experience of the experts. The goal of the recommendations is to optimize the management of these patients during their transition to adulthood, bearing in mind the need for multidisciplinary management, as well as the most relevant medical and psychosocial factors in the region.

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A coordinated transition model for patients with cystinosis: from pediatric to adult care

Cited by 6 publications

References 44 publications

Transition of Chronic Pediatric Nephrological Patients to Adult Care Excluding Patients on Renal Replacement Therapy with Literature Review

Transition of Chronic Pediatric Nephrological Patients to Adult Care Excluding Patients on Renal Replacement Therapy with Literature Review

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

Latin-American consensus on the transition into adult life of patients with X-linked hypophosphatemia

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