Cistinosis nefropática: caso clínico que ilustra diagnóstico molecular

Nephropatic 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-month-old girl with a...

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Autores principales:	Krall,Paola, Nualart,Daniela, Grandy,Jean
Lenguaje:	Spanish / Castilian
Publicado:	Sociedad Médica de Santiago 2018
Materias:	Cystinosis Cysteamine Kidney Transplantation Molecular Diagnostic Techniques
Acceso en línea:	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872018000100111
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spelling	oai:scielo:S0034-988720180001001112018-05-11Cistinosis nefropática: caso clínico que ilustra diagnóstico molecularKrall,PaolaNualart,DanielaGrandy,Jean Cystinosis Cysteamine Kidney Transplantation Molecular Diagnostic Techniques Nephropatic 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-month-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.info:eu-repo/semantics/openAccessSociedad Médica de SantiagoRevista médica de Chile v.146 n.1 20182018-01-01text/htmlhttp://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872018000100111es10.4067/s0034-98872018000100111
institution	Scielo Chile
collection	Scielo Chile
language	Spanish / Castilian
topic	Cystinosis Cysteamine Kidney Transplantation Molecular Diagnostic Techniques
spellingShingle	Cystinosis Cysteamine Kidney Transplantation Molecular Diagnostic Techniques Krall,Paola Nualart,Daniela Grandy,Jean Cistinosis nefropática: caso clínico que ilustra diagnóstico molecular
description	Nephropatic 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-month-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.
author	Krall,Paola Nualart,Daniela Grandy,Jean
author_facet	Krall,Paola Nualart,Daniela Grandy,Jean
author_sort	Krall,Paola
title	Cistinosis nefropática: caso clínico que ilustra diagnóstico molecular
title_short	Cistinosis nefropática: caso clínico que ilustra diagnóstico molecular
title_full	Cistinosis nefropática: caso clínico que ilustra diagnóstico molecular
title_fullStr	Cistinosis nefropática: caso clínico que ilustra diagnóstico molecular
title_full_unstemmed	Cistinosis nefropática: caso clínico que ilustra diagnóstico molecular
title_sort	cistinosis nefropática: caso clínico que ilustra diagnóstico molecular
publisher	Sociedad Médica de Santiago
publishDate	2018
url	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872018000100111
work_keys_str_mv	AT krallpaola cistinosisnefropaticacasoclinicoqueilustradiagnosticomolecular AT nualartdaniela cistinosisnefropaticacasoclinicoqueilustradiagnosticomolecular AT grandyjean cistinosisnefropaticacasoclinicoqueilustradiagnosticomolecular
_version_	1718436987032043520

Cistinosis nefropática: caso clínico que ilustra diagnóstico molecular

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