Expert guidance on the multidisciplinary management of cystinosis in adolescent and adult patients
© The Author(s) 2022. Published by Oxford University Press on behalf of the ERA..
Cystinosis, a rare autosomal recessive lysosomal storage disorder, results in an abnormal accumulation of the amino acid cystine in multiple organs and tissues of the body. Renal symptoms typically develop in the first few months of life, with extra-renal manifestations becoming apparent over the next 10-20 years, which require coordinated multidisciplinary care. Here, we describe a consensus-based guidance to support the management of adolescents and adults living with cystinosis. The programme was led by a Steering Committee (SC) of six experts in the management of patients with cystinosis, who identified a list of 15 key questions reflecting the multi-organ effects of cystinosis. An Extended Faculty (EF) of eight additional specialists was invited to answer the questions via an online digital platform using a quasi-Delphi approach. The consolidated answers were summarized into recommendations. Where evidence was lacking, recommendations were developed using collective expert consensus. The EF was asked to agree/disagree with the clinical recommendations. The expert-agreed clinical recommendations provide guidance that considers both renal and extra-renal systems. The topics covered are advice on fertility and family planning, consideration of the nervous, muscular, ophthalmic, cardio-respiratory, endocrine, dermatological and gastrointestinal systems, as well as guidance on dental care, diet, lifestyle, and improving quality of life and psychological well-being. In summary, this work outlines recommendations and a checklist for clinicians with a vision for improving and standardizing the multidisciplinary care for patients with cystinosis.
| Medienart: |
E-Artikel |
|---|
| Erscheinungsjahr: |
2022 |
|---|---|
| Erschienen: |
2022 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:15 |
|---|---|
| Enthalten in: |
Clinical kidney journal - 15(2022), 9 vom: 15. Sept., Seite 1675-1684 |
| Sprache: |
Englisch |
|---|
| Beteiligte Personen: |
Levtchenko, Elena [VerfasserIn] |
|---|
| Links: |
|---|
| Themen: |
Adult and adolescent |
|---|
| Anmerkungen: |
Date Revised 26.08.2022 published: Electronic-eCollection Citation Status PubMed-not-MEDLINE |
|---|
| doi: |
10.1093/ckj/sfac099 |
|---|
| funding: |
|
|---|---|
| Förderinstitution / Projekttitel: |
|
| PPN (Katalog-ID): |
NLM345221044 |
|---|
| LEADER | 01000naa a22002652 4500 | ||
|---|---|---|---|
| 001 | NLM345221044 | ||
| 003 | DE-627 | ||
| 005 | 20231226024555.0 | ||
| 007 | cr uuu---uuuuu | ||
| 008 | 231226s2022 xx |||||o 00| ||eng c | ||
| 024 | 7 | |a 10.1093/ckj/sfac099 |2 doi | |
| 028 | 5 | 2 | |a pubmed24n1150.xml |
| 035 | |a (DE-627)NLM345221044 | ||
| 035 | |a (NLM)36003666 | ||
| 040 | |a DE-627 |b ger |c DE-627 |e rakwb | ||
| 041 | |a eng | ||
| 100 | 1 | |a Levtchenko, Elena |e verfasserin |4 aut | |
| 245 | 1 | 0 | |a Expert guidance on the multidisciplinary management of cystinosis in adolescent and adult patients |
| 264 | 1 | |c 2022 | |
| 336 | |a Text |b txt |2 rdacontent | ||
| 337 | |a ƒaComputermedien |b c |2 rdamedia | ||
| 338 | |a ƒa Online-Ressource |b cr |2 rdacarrier | ||
| 500 | |a Date Revised 26.08.2022 | ||
| 500 | |a published: Electronic-eCollection | ||
| 500 | |a Citation Status PubMed-not-MEDLINE | ||
| 520 | |a © The Author(s) 2022. Published by Oxford University Press on behalf of the ERA. | ||
| 520 | |a Cystinosis, a rare autosomal recessive lysosomal storage disorder, results in an abnormal accumulation of the amino acid cystine in multiple organs and tissues of the body. Renal symptoms typically develop in the first few months of life, with extra-renal manifestations becoming apparent over the next 10-20 years, which require coordinated multidisciplinary care. Here, we describe a consensus-based guidance to support the management of adolescents and adults living with cystinosis. The programme was led by a Steering Committee (SC) of six experts in the management of patients with cystinosis, who identified a list of 15 key questions reflecting the multi-organ effects of cystinosis. An Extended Faculty (EF) of eight additional specialists was invited to answer the questions via an online digital platform using a quasi-Delphi approach. The consolidated answers were summarized into recommendations. Where evidence was lacking, recommendations were developed using collective expert consensus. The EF was asked to agree/disagree with the clinical recommendations. The expert-agreed clinical recommendations provide guidance that considers both renal and extra-renal systems. The topics covered are advice on fertility and family planning, consideration of the nervous, muscular, ophthalmic, cardio-respiratory, endocrine, dermatological and gastrointestinal systems, as well as guidance on dental care, diet, lifestyle, and improving quality of life and psychological well-being. In summary, this work outlines recommendations and a checklist for clinicians with a vision for improving and standardizing the multidisciplinary care for patients with cystinosis | ||
| 650 | 4 | |a Journal Article | |
| 650 | 4 | |a Review | |
| 650 | 4 | |a adult and adolescent | |
| 650 | 4 | |a checklist | |
| 650 | 4 | |a clinical recommendations | |
| 650 | 4 | |a consensus statements | |
| 650 | 4 | |a cysteamine | |
| 650 | 4 | |a cystinosis | |
| 650 | 4 | |a disease management | |
| 650 | 4 | |a multidisciplinary care | |
| 650 | 4 | |a rare diseases | |
| 700 | 1 | |a Servais, Aude |e verfasserin |4 aut | |
| 700 | 1 | |a Hulton, Sally A |e verfasserin |4 aut | |
| 700 | 1 | |a Ariceta, Gema |e verfasserin |4 aut | |
| 700 | 1 | |a Emma, Francesco |e verfasserin |4 aut | |
| 700 | 1 | |a Game, David S |e verfasserin |4 aut | |
| 700 | 1 | |a Lange, Karin |e verfasserin |4 aut | |
| 700 | 1 | |a Lapatto, Risto |e verfasserin |4 aut | |
| 700 | 1 | |a Liang, Hong |e verfasserin |4 aut | |
| 700 | 1 | |a Sberro-Soussan, Rebecca |e verfasserin |4 aut | |
| 700 | 1 | |a Topaloglu, Rezan |e verfasserin |4 aut | |
| 700 | 1 | |a Das, Anibh M |e verfasserin |4 aut | |
| 700 | 1 | |a Webb, Nicholas J A |e verfasserin |4 aut | |
| 700 | 1 | |a Wanner, Christoph |e verfasserin |4 aut | |
| 773 | 0 | 8 | |i Enthalten in |t Clinical kidney journal |d 2012 |g 15(2022), 9 vom: 15. Sept., Seite 1675-1684 |w (DE-627)NLM219739579 |x 2048-8505 |7 nnns |
| 773 | 1 | 8 | |g volume:15 |g year:2022 |g number:9 |g day:15 |g month:09 |g pages:1675-1684 |
| 856 | 4 | 0 | |u http://dx.doi.org/10.1093/ckj/sfac099 |3 Volltext |
| 912 | |a GBV_USEFLAG_A | ||
| 912 | |a GBV_NLM | ||
| 951 | |a AR | ||
| 952 | |d 15 |j 2022 |e 9 |b 15 |c 09 |h 1675-1684 | ||