Vol 8-1 Research Article

Clinical and Genetic Characterization of Cystinosis: Unmet Healthcare Needs in a Cohort Study from a Developing Country

Paola Krall1,2* Jean Grandy3*, Lillian Bolte4,5*, Jennie Salgado6, Felipe Cavagnaro5, Claudia González7,8, Jose Luis Guerrero2,9*

1 Institute of Medicine, Faculty of Medicine, Universidad Austral de Chile, Valdivia.

2 Department of Pediatrics and Child Surgery, Faculty of Medicine, University of Chile, Santiago de Chile.

3 Department of Nephrology, Hospital Exequiel González Cortés, Santiago de Chile.

4 Department of Nephrology, Hospital Roberto del Río, Santiago de Chile.

5 Department of Pediatrics, Clínica Alemana de Santiago, Santiago de Chile.

6 Department of Nephrology, Hospital CQ Herminda Martín, Chillán.

7 Department of Nephrology, Hospital Sótero del Río, Santiago de Chile

8 Department of Pediatrics, Pontificia Universidad Católica de Chile, Santiago de Chile

9Department of Nephrology, Hospital Dr. Luis Calvo Mackenna, Santiago de Chile.

(*) all these authors contributed equally.

Background

Cystinosis is a rare disease caused by CTNS gene defects. The main clinical presentations are nephropathic infantile cystinosis (NIC) and nephropathic juvenile cystinosis (NJC); both develop chronic kidney disease (CKD) and extrarenal complications. Opportune diagnosis and access to therapy are challenging in developing countries.

Methods

To describe the clinical and genetic profile in all cystinosis patients known to be diagnosed in Chile, we performed a retrospective review of the medical records of those patients diagnosed from 1994 to 2022. Age at diagnosis, glomerular filtration rate, metabolic variables, anthropometric values, access to treatment, outcomes, and genetic results were analyzed.

Results

Nine patients (8NIC/1NJC) were diagnosed. Patients with NIC had a median age of 16.5 (IQR 13-23) months at diagnosis, and two patients died during follow-up. Most of the patients started cysteamine therapy up to 5 months after diagnosis and reached CKD stages 3-4 within four years. During the follow-up, all but one of the NIC patients showed height for age Z-score values between -1.5 and -4.0. Two patients received kidney transplants, and one of them remains functional after 15 years. The single NJC was a 21-year-old female patient who received irregular cysteamine therapy and rapidly reached CKD stage 5. Genetic testing was positive in 7/7 cases, being del57kb the predominant variant (10/14 alleles).

Conclusions

Developing countries face many challenges in providing adequate healthcare. Our findings show clinical and diagnostic aspects to the medical and patient community that might contribute to the diagnostic approach and treatment access for cystinosis in Chile. Opportune genetic testing may facilitate early diagnosis that is known to be associated with a better prognosis.

DOI: 10.29245/2572-9411/2023/1.1208 View / Download Pdf
Vol 7-3 Case Report

The Use of Dexmedetomidine for The Prevention of Sevoflurane Related Emergence Agitation in a Patient with Angelman Syndrome Who Underwent General Anesthesia for Magnetic Resonance Imaging. “Case Report”.

Carlos Ramírez-Paesano*, Camila Carrasco Chacón, Claudia Rodiera Clarens, Josep Rodiera Olive

Servei Central d’Anestesia (Anestalia), Centro Médico Teknon-Quironsalud, Barcelona.Spain

Angelman syndrome is the consequence of a genetic alteration in the chromosome 15 where the expression of the β3-subunits of GABA-A receptors is encoded. So, unpredictable responses to intravenous GABA-anesthetics may be the result.

We present a 19-year-old male patient with AS who required anesthesia to undergo an MRI and CT-scan. All his previous anesthetic procedures were complicated by severe emergence agitation with physical self-injury. His parents also mentioned that the patient reacted with paradoxical agitation due to benzodiazepines (midazolam) administration in previous anesthesia.

Dexmedetomidine (an α-2- adrenergic agonist) has been used in pediatric anesthesia as an adjuvant to attenuate agitation events after inhalation anesthesia. However, there are few publications on its use in patients with AS.

We describe the use of a single intravenous dose of dexmedetomidine (0.2μg/Kg) to prevent sevoflurane-related emergence agitation with good results.In addition, the potential benefits and precautions in using this non-GABA drug in patients with AS are discussed.

DOI: 10.29245/2572-9411/2022/3.1207 View / Download Pdf