Successful Management of a Neglected Case of Nephropathic Cystinosis
Cystinosis is a rare metabolic disorder characterised by lysosomal cystine accumulation leading to multi-organ damage; clinically, the kidneys are the first organ affected. Respiratory insufficiency caused by overall respiratory muscle myopathy is a life-threatening complication. Treatment with cyst...
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| Format: | Article |
| Language: | English |
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Sultan Qaboos University
2014-05-01
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| Series: | Sultan Qaboos University Medical Journal |
| Subjects: | |
| Online Access: | https://journals.squ.edu.om/index.php/squmj/article/view/1916 |
| _version_ | 1818066559614058496 |
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| author | Mohamed A. El-Naggari Ibtisam Elnour Hussein Al-Kindy Aamir Al-Shahrabally Anas A. Abdelmogheth |
| author_facet | Mohamed A. El-Naggari Ibtisam Elnour Hussein Al-Kindy Aamir Al-Shahrabally Anas A. Abdelmogheth |
| author_sort | Mohamed A. El-Naggari |
| collection | DOAJ |
| description | Cystinosis is a rare metabolic disorder characterised by lysosomal cystine accumulation leading to multi-organ damage; clinically, the kidneys are the first organ affected. Respiratory insufficiency caused by overall respiratory muscle myopathy is a life-threatening complication. Treatment with cysteamine should be initiated rapidly and continued lifelong to prolong renal function and protect the extra-renal organs. We report the case of a four-year-old Omani girl, diagnosed with infantile nephropathic cystinosis at 21 months. Cysteamine was prescribed but with no compliance to medications. She presented to the Child Health Department of Sultan Qaboos University Hospital, Oman, two years later with severe failure to thrive, electrolyte disturbance and respiratory failure. The hypoventilation and early respiratory dysfunction, due to intercostal and diaphragm myopathy, was treated by non-invasive positive-pressure ventilation. The patient was discharged after four months of intensive rehabilitation with no ventilator support. No standard treatment options have yet been established for respiratory dysfunction in cystinosis. |
| first_indexed | 2024-12-10T15:09:43Z |
| format | Article |
| id | doaj.art-f8e5a5b154b74d96badc26eab49dbdf9 |
| institution | Directory Open Access Journal |
| issn | 2075-051X 2075-0528 |
| language | English |
| last_indexed | 2024-12-10T15:09:43Z |
| publishDate | 2014-05-01 |
| publisher | Sultan Qaboos University |
| record_format | Article |
| series | Sultan Qaboos University Medical Journal |
| spelling | doaj.art-f8e5a5b154b74d96badc26eab49dbdf92022-12-22T01:43:58ZengSultan Qaboos UniversitySultan Qaboos University Medical Journal2075-051X2075-05282014-05-011422452481840Successful Management of a Neglected Case of Nephropathic CystinosisMohamed A. El-Naggari0Ibtisam Elnour1Hussein Al-Kindy2Aamir Al-Shahrabally3Anas A. Abdelmogheth4Department of Child Health, Sultan Qaboos University Hospital, Muscat, OmanDepartment of Child Health, Sultan Qaboos University Hospital, Muscat, OmanDepartment of Child Health, Sultan Qaboos University Hospital, Muscat, OmanDepartment of Child Health, Sultan Qaboos University Hospital, Muscat, OmanDepartment of Child Health, Sultan Qaboos University Hospital, Muscat, OmanCystinosis is a rare metabolic disorder characterised by lysosomal cystine accumulation leading to multi-organ damage; clinically, the kidneys are the first organ affected. Respiratory insufficiency caused by overall respiratory muscle myopathy is a life-threatening complication. Treatment with cysteamine should be initiated rapidly and continued lifelong to prolong renal function and protect the extra-renal organs. We report the case of a four-year-old Omani girl, diagnosed with infantile nephropathic cystinosis at 21 months. Cysteamine was prescribed but with no compliance to medications. She presented to the Child Health Department of Sultan Qaboos University Hospital, Oman, two years later with severe failure to thrive, electrolyte disturbance and respiratory failure. The hypoventilation and early respiratory dysfunction, due to intercostal and diaphragm myopathy, was treated by non-invasive positive-pressure ventilation. The patient was discharged after four months of intensive rehabilitation with no ventilator support. No standard treatment options have yet been established for respiratory dysfunction in cystinosis.https://journals.squ.edu.om/index.php/squmj/article/view/1916cystinosiscysteaminecontinuous positive airway pressurepositive-pressure ventilationfailure to thrivepediatric intensive care unitscase reportoman. |
| spellingShingle | Mohamed A. El-Naggari Ibtisam Elnour Hussein Al-Kindy Aamir Al-Shahrabally Anas A. Abdelmogheth Successful Management of a Neglected Case of Nephropathic Cystinosis Sultan Qaboos University Medical Journal cystinosis cysteamine continuous positive airway pressure positive-pressure ventilation failure to thrive pediatric intensive care units case report oman. |
| title | Successful Management of a Neglected Case of Nephropathic Cystinosis |
| title_full | Successful Management of a Neglected Case of Nephropathic Cystinosis |
| title_fullStr | Successful Management of a Neglected Case of Nephropathic Cystinosis |
| title_full_unstemmed | Successful Management of a Neglected Case of Nephropathic Cystinosis |
| title_short | Successful Management of a Neglected Case of Nephropathic Cystinosis |
| title_sort | successful management of a neglected case of nephropathic cystinosis |
| topic | cystinosis cysteamine continuous positive airway pressure positive-pressure ventilation failure to thrive pediatric intensive care units case report oman. |
| url | https://journals.squ.edu.om/index.php/squmj/article/view/1916 |
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