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NEPHROPATIC CYSTINOSIS. REPORT OF ONE CASE

Cistinosis nefropática: Caso clínico que ilustra diagnóstico molecular

dc.contributoren-US
dc.contributorFONDECYT 111-40242, Universidad Austral de Chilees-ES
dc.creatorKrall, Paola; Universidad Austral de Chile
dc.creatorNualart, Daniela; Universidad Austral de Chile
dc.creatorGrandy, Jean; Hospital Exequiel Gonzalez Cortes
dc.date2018-01-30
dc.date.accessioned2019-11-11T18:27:35Z
dc.date.available2019-11-11T18:27:35Z
dc.identifierhttp://www.revistamedicadechile.cl/ojs/index.php/rmedica/article/view/6335
dc.identifier.urihttps://revistaschilenas.uchile.cl/handle/2250/111191
dc.descriptionNephropatic cystinosis (NC) is a rare disease associated with pathogenic variants in the CTNS gene, with a common variant that consists of a 57kb-deletion involving CTNS. Patients with NC that are treated with cysteamine improve their life quality and expectancy. We report a 12 months old girl with a poor growth rate since the 4th month of life. She was admitted to the Hospital with acute kidney injury, severe dehydration and metabolic acidosis. She was treated with volume restorative and bicarbonate. Proximal tubulopathy and Fanconi´s syndrome was diagnosed. Medical treatment improved renal function that was stabilized in stage 4 chronic kidney disease (CKD). Since infantile NC was suspected, CTNS genetic analysis was considered. Genomic DNA was isolated from peripheral blood to perform PCR for exons 3-12 in CTNS gene and for the specific 57kb-deletion PCR. Afterwards, variant segregation analysis was performed in the familiar trio. The genetic analysis showed that the patient was homozygous for the common 57kb-deletion encompassing CTNS that had been inherited from her asymptomatic heterozygous parents. The molecular confirmation allowed genetic counselling for parents and facilitated the access to cysteamine. Oral treatment with cysteamine resulted in improvement of renal function to CKD stage 3. After 16 months of treatment the patient shows metabolic stability and mild recovery of height. Ophthalmologic follow up detected ocular cystine crystals 12 months after diagnosis, starting cysteamine drops.en-US
dc.descriptionNephropatic cystinosis (NC) is a rare disease associated with pathogenic variants in the CTNS gene, with a common variant that consists of a 57kb-deletion involving CTNS. Patients with NC that are treated with cysteamine improve their life quality and expectancy. We report a 12 months old girl with a poor growth rate since the 4th month of life. She was admitted to the Hospital with acute kidney injury, severe dehydration and metabolic acidosis. She was treated with volume restorative and bicarbonate. Proximal tubulopathy and Fanconi´s syndrome was diagnosed. Medical treatment improved renal function that was stabilized in stage 4 chronic kidney disease (CKD). Since infantile NC was suspected, CTNS genetic analysis was considered. Genomic DNA was isolated from peripheral blood to perform PCR for exons 3-12 in CTNS gene and for the specific 57kb-deletion PCR. Afterwards, variant segregation analysis was performed in the familiar trio. The genetic analysis showed that the patient was homozygous for the common 57kb-deletion encompassing CTNS that had been inherited from her asymptomatic heterozygous parents. The molecular confirmation allowed genetic counselling for parents and facilitated the access to cysteamine. Oral treatment with cysteamine resulted in improvement of renal function to CKD stage 3. After 16 months of treatment the patient shows metabolic stability and mild recovery of height. Ophthalmologic follow up detected ocular cystine crystals 12 months after diagnosis, starting cysteamine drops.es-ES
dc.formatapplication/pdf
dc.languagespa
dc.publisherRevista Médica de Chilees-ES
dc.relationhttp://www.revistamedicadechile.cl/ojs/index.php/rmedica/article/view/6335/3705
dc.relationhttp://www.revistamedicadechile.cl/ojs/index.php/rmedica/article/downloadSuppFile/6335/31941
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dc.relationhttp://www.revistamedicadechile.cl/ojs/index.php/rmedica/article/downloadSuppFile/6335/33292
dc.sourceRevista Médica de Chile; Vol. 146, núm. 1 (2018): ENERO 2018es-ES
dc.source0034-9887
dc.subjectCystinosis; Cysteamine; Kidney transplantation; Molecular Diagnostic Techniquesen-US
dc.subjectCystinosis; Cysteamine; Kidney transplantation; Molecular Diagnostic Techniqueses-ES
dc.titleNEPHROPATIC CYSTINOSIS. REPORT OF ONE CASEen-US
dc.titleCistinosis nefropática: Caso clínico que ilustra diagnóstico moleculares-ES
dc.typeinfo:eu-repo/semantics/article
dc.typeinfo:eu-repo/semantics/publishedVersion
dc.typees-ES


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