Cystinosis in Eastern Turkey
-
Murat Doğan
,
Keziban Bulan
Abstract
Background:
This study was conducted to investigate CTNS (cystinosin, lysosomal cystine transporter) gene mutations and the clinical spectrum of nephropathic cystinosis among patients diagnosed with the disease in a single center in Turkey.
Methods:
Patients’ clinical and laboratory data were extracted from an electronic health registry. Molecular CTNS gene analysis was performed using either next-generation sequencing or Sanger sequencing.
Results:
Eleven patients (age range: 1.5–12 years) from nine families were identified. The presenting complaint was growth retardation in seven patients; polydipsia and polyuria in three patients; and vomiting in two patients. At presentation, electrolyte loss was noted in all patients, of which eight patients presented with metabolic acidosis, and three patients presented with metabolic alkalosis. All patients also presented with proteinuria and glucosuria, and four patients developed varying degrees of renal insufficiency, for which peritoneal dialysis was initiated in one patient. Cystine crystals were detected via ocular examination in one patient at presentation. No cystine crystals were detected among patients who underwent bone marrow aspiration. In the CTNS gene, a p.T7FX7 (c.18-21del4bp) mutation was detected in three patients, whereas a p.E227E (c.681 G>A) (homozygous) mutation was detected in eight patients.
Conclusions:
We detected two distinct mutations, p.T7FX7 (c.18-21del4bp) and p.E227E (c.681 G>A) (homozygous), in the CTNS gene in 11 patients with cystinosis from the East Anatolian region of Turkey. Patients with a homozygous c.681 G>A (p.E227E) mutation are more likely to develop chronic renal failure and should be monitored closely, whereas patients with a p.T7FX7 (c.18-21del4bp) mutation have a milder phenotype. Additionally, metabolic alkalosis does not exclude cystinosis, although cystinosis is a cause of proximal renal tubular acidosis.
Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.
Research funding: None declared.
Employment or leadership: None declared.
Honorarium: None declared.
Competing interests: The funding organization(s) played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.
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©2016 Walter de Gruyter GmbH, Berlin/Boston
Artikel in diesem Heft
- Frontmatter
- Original Articles
- Decreased undercarboxylated osteocalcin in children with type 2 diabetes mellitus
- Evaluation of left and right ventricular functions using conventional and tissue Doppler echocardiography in children with type 1 diabetes mellitus
- Prevalence of psychosocial morbidity in children with type 1 diabetes mellitus: a survey from Northern India
- Increased GLP-1 response to oral glucose in pre-pubertal obese children
- Prevalence of idiopathic intracranial hypertension and associated factors in obese children and adolescents
- Idiopathic postprandial hyperinsulinaemic hypoglycaemia
- Feeding, eating and behavioral disturbances in Prader-Willi syndrome and non-syndromal obesity
- Interpretation of thyroid glands in a group of healthy children: real-time ultrasonography elastography study
- Ghrelin, insulin-like growth factor I and adipocytokines concentrations in born small for gestational age prepubertal children after the catch-up growth
- Zoledronate for Osteogenesis imperfecta: evaluation of safety profile in children
- Elevated serum adiponectin is related to elevated serum ferritin and interleukin-6 in β-thalassaemia major children
- GCK mutations in Chinese MODY2 patients: a family pedigree report and review of Chinese literature
- Cystinosis in Eastern Turkey
- Microarray analysis of slipped capital femoral epiphysis growth plates
- Case Reports
- Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy: report of three cases from Iran
- Type 1 diabetes and GAD65 limbic encephalitis: a case report of a 10-year-old girl
- A novel splice site mutation in the GNPTAB gene in an Iranian patient with mucolipidosis II α/β
- Parent observed neuro-behavioral and pro-social improvements with oxytocin following surgical resection of craniopharyngioma
- A fatal outcome of complicated severe diabetic ketoacidosis in a 11-year-old girl
Artikel in diesem Heft
- Frontmatter
- Original Articles
- Decreased undercarboxylated osteocalcin in children with type 2 diabetes mellitus
- Evaluation of left and right ventricular functions using conventional and tissue Doppler echocardiography in children with type 1 diabetes mellitus
- Prevalence of psychosocial morbidity in children with type 1 diabetes mellitus: a survey from Northern India
- Increased GLP-1 response to oral glucose in pre-pubertal obese children
- Prevalence of idiopathic intracranial hypertension and associated factors in obese children and adolescents
- Idiopathic postprandial hyperinsulinaemic hypoglycaemia
- Feeding, eating and behavioral disturbances in Prader-Willi syndrome and non-syndromal obesity
- Interpretation of thyroid glands in a group of healthy children: real-time ultrasonography elastography study
- Ghrelin, insulin-like growth factor I and adipocytokines concentrations in born small for gestational age prepubertal children after the catch-up growth
- Zoledronate for Osteogenesis imperfecta: evaluation of safety profile in children
- Elevated serum adiponectin is related to elevated serum ferritin and interleukin-6 in β-thalassaemia major children
- GCK mutations in Chinese MODY2 patients: a family pedigree report and review of Chinese literature
- Cystinosis in Eastern Turkey
- Microarray analysis of slipped capital femoral epiphysis growth plates
- Case Reports
- Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy: report of three cases from Iran
- Type 1 diabetes and GAD65 limbic encephalitis: a case report of a 10-year-old girl
- A novel splice site mutation in the GNPTAB gene in an Iranian patient with mucolipidosis II α/β
- Parent observed neuro-behavioral and pro-social improvements with oxytocin following surgical resection of craniopharyngioma
- A fatal outcome of complicated severe diabetic ketoacidosis in a 11-year-old girl
