Successful management of a neglected case of nephropathic cystinosis

Mohamed A. El-Naggari, Ibtisam Elnour, Hussein Al-Kindy, Aamir Al-Shahrabally, Anas A. Abdelmogheth

Research output: Contribution to journalArticle

2 Citations (Scopus)

Abstract

Cystinosis is a rare metabolic disorder characterized 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. Te 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.

Original languageEnglish
JournalSultan Qaboos University Medical Journal
Volume14
Issue number2
Publication statusPublished - 2014

Fingerprint

Cystinosis
Cysteamine
Muscular Diseases
Kidney
Respiratory Insufficiency
Oman
Hypoventilation
Failure to Thrive
Respiratory Muscles
Cystine
Medication Adherence
Positive-Pressure Respiration
Mechanical Ventilators
Diaphragm
Electrolytes
Rehabilitation
Therapeutics

Keywords

  • Case report
  • Continuous positive airway pressure
  • Cysteamine
  • Cystinosis
  • Failure to trive
  • Oman
  • Pediatric intensive care units
  • Positive-pressure ventilation

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Successful management of a neglected case of nephropathic cystinosis. / El-Naggari, Mohamed A.; Elnour, Ibtisam; Al-Kindy, Hussein; Al-Shahrabally, Aamir; Abdelmogheth, Anas A.

In: Sultan Qaboos University Medical Journal, Vol. 14, No. 2, 2014.

Research output: Contribution to journalArticle

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