Cystinosis

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Table of Contents

Genetics and Pathophysiology. . . . . . . . . . . . . . . . 3

Treatment with Cysteine-depleting Agents . . . . . . . . . . 3

Nephrology. . . . . . . . . . . . . . . . . . . . . . . . . . . 3

Transplant . . . . . . . . . . . . . . . . . . . . . . . . . . . . 4

Sexual Maturation . . . . . . . . . . . . . . . . . . . . . . . 4

Gastroenterology . . . . . . . . . . . . . . . . . . . . . . . . 5

Ophthalmology . . . . . . . . . . . . . . . . . . . . . . . . 5

Neurology . . . . . . . . . . . . . . . . . . . . . . . . . . . . 6

Cardiology. . . . . . . . . . . . . . . . . . . . . . . . . . . 6

Endocrinology. . . . . . . . . . . . . . . . . . . . . . . . . 7

Pulmonology . . . . . . . . . . . . . . . . . . . . . . . . . . 7

Diet . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 8

Speech Therapy . . . . . . . . . . . . . . . . . . . . . . . . 8

Physical Therapy/Rehab Medicine . . . . . . . . . . . . . . 9

Psychosocial Concerns. . . . . . . . . . . . . . . . . . . . 10

Orthopedics. . . . . . . . . . . . . . . . . . . . . . . . . . 10

Laboratory. . . . . . . . . . . . . . . . . . . . . . . . . . .11

References. . . . . . . . . . . . . . . . . . . . . . . . . . .12

Author List. . . . . . . . . . . . . . . . . . . . . . . . . . .12

Acknowledgements. . . . . . . . . . . . . . . . . . . . . . 12

Recommendations
Info

Table of Contents Genetics and Pathophysiology. . . . . . . . . . . . . . . . 3 Treatment with Cysteine-depleting Agents . . . . . . . . . . 3 Nephrology. . . . . . . . . . . . . . . . . . . . . . . . . . . 3 Transplant . . . . . . . . . . . . . . . . . . . . . . . . . . . . 4 Sexual Maturation . . . . . . . . . . . . . . . . . . . . . . . 4 Gastroenterology . . . . . . . . . . . . . . . . . . . . . . . . 5 Ophthalmology . . . . . . . . . . . . . . . . . . . . . . . . 5 Neurology . . . . . . . . . . . . . . . . . . . . . . . . . . . . 6 Cardiology. . . . . . . . . . . . . . . . . . . . . . . . . . . 6 Endocrinology. . . . . . . . . . . . . . . . . . . . . . . . . 7 Pulmonology . . . . . . . . . . . . . . . . . . . . . . . . . . 7 Diet . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 8 Speech Therapy . . . . . . . . . . . . . . . . . . . . . . . . 8 Physical Therapy/Rehab Medicine . . . . . . . . . . . . . . 9 Psychosocial Concerns. . . . . . . . . . . . . . . . . . . . 10 Orthopedics. . . . . . . . . . . . . . . . . . . . . . . . . . 10 Laboratory. . . . . . . . . . . . . . . . . . . . . . . . . . .11 References. . . . . . . . . . . . . . . . . . . . . . . . . . .12 Author List. . . . . . . . . . . . . . . . . . . . . . . . . . .12 Acknowledgements. . . . . . . . . . . . . . . . . . . . . . 12 2015 © Cystinosis Research Network. All Rights Reserved.

Introduction In the past, cystinosis, a rare genetic disease, had high childhood mortality. However, general advances in medical care and the development of an effective therapy for cystinosis has allowed many patients with this disease to have productive lives as adults. This has created the need for a user friendly concise tool with management guidelines since many primary and specialty care internal medicine practitioners are unfamiliar with cystinosis. This tool was developed by pediatric and adult providers with experience in the care of patients with cystinosis to assist physicians less experienced in this rare disease to improve transition of care.

Page 1: Cystinosis Transition Management To
Page 5 and 6: Genetics and Pathophysiology Cystin
Page 7 and 8: Consider birth control options to a
Page 9 and 10: cardiovascular problems. In additio
Page 11 and 12: Many children who are fed by gastri
Page 13 and 14: these children and need to be treat
Page 15: 302 Whytegate Court Lake Forest, IL

Cystinosis

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