Genotypic and phenotypic features of the cystinosis patients from the South Eastern part of Turkey

Önenli-Mungan, Neslihan; Kör, Deniz; Karabay-Bayazit, Aysun; Cengız, Nurcan; Yavuz, Sevgi; Noyan, Aytül; Ceylaner, Gülay; Yılmaz, Bilge; Topaloğlu, Ali Kemal; Yüksel, Bilgin; Anarat, Ali

doi:10.24953/turkjped.2016.04.003

Cited by 3 publications

(1 citation statement)

References 16 publications

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“…4 In the study by Atmış et al 9 , it was reported that patients with the c.451A>G mutation had older ages at diagnosis and longer follow-up periods compared to patients with other mutations. In our study, similar to the previously reported findings from the same region in our country, the homozygous c.451A>G p.Arg151Gly mutation was also found to be prevalent 9,15 . The higher proportion of patients with the homozygous c.451A>G p.Arg151Gly mutation, which was the initial description was provided by Topaloglu et al in Turkey 16 , in our study might have contributed to the higher average age at diagnosis compared to previous studies.…”

Section: Discussionsupporting

confidence: 92%

Evaluation of Cystinosis Patients and Factors Associated with Chronic Kidney Disease

AVCI,

PARMAKSIZ

2023

J Cukurova Anesth Surg

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Introduction: Cystinosis is a rare genetic, lysosomal storage disorder, leading to kidney involvement and other organs. The most critical factor determining the prognosis is its impact on the kidneys especially nephropatic cystinosis. This study aimed to evaluate cystinosis patients and identify factors associated with chronic kidney disease (CKD). Methods: The medical records of 18 nephropatic cystinosis patients were retrospectively reviewed. Demographic and clinical features, prognosis were evaluated. Patients were classified according to their estimated glomerular filtration rate (eGFR) at last visit as eGFR60 ml/min/1.73 m2, and were compared for CKD related factors. Results: The mean age at diagnosis was 46.61±50.42 months. The most common allel was c. 451A>G. Polyuria, polydipsia, vomiting, growth retardation, and renal osteodystrophy were typical presenting symptoms. At diagnosis, the mean eGFR was 72.94±21.69 ml/min/1.73 m². After an average follow-up of 68.28±60.18 months, the mean eGFR was 63.97±23.59 ml/min/1.73 m², and CKD was observed in 44.4% of patients, and 5 (27.8%) underwent kidney replacement theraphy (KRT). In patients with GFR

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Section: Discussionsupporting

confidence: 92%

Evaluation of Cystinosis Patients and Factors Associated with Chronic Kidney Disease

AVCI,

PARMAKSIZ

2023

J Cukurova Anesth Surg

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More than tubular dysfunction: cystinosis and kidney outcomes

et al. 2021

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A 57 kB Genomic Deletion Causing CTNS Loss of Function Contributes to the CTNS Mutational Spectrum in the Middle East

et al. 2019

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Background: Nephropathic Cystinosis, the most common cause of renal Fanconi syndrome, is a lysosomal transport disorder with an autosomal recessive inheritance pattern. A large number of mutations in CTNS have been identified as causative to date. A 57 kb deletion encompassing parts of CTNS is most commonly identified in Caucasians but this allele has not been identified in individuals of Eastern Mediterranean, Middle Eastern, Persian, or Arab origin to date. Methods and Results: Implementing whole exome sequencing (WES) in a consanguineous Iranian family, we identified this large deletion affecting CTNS in a patient initially presenting with hypokalemic metabolic alkalosis symptoms and considerable proteinuria. Conclusion: We show WES is a cost and time efficient genetic diagnostics modality to identify the underlying molecular pathology in Cystinosis individuals and provide a summary of all previously reported CTNS alleles in the Middle east population. Our work also highlights the importance to consider the 57-kb deletion as underlying genetic cause in non-European populations, including the Middle East. Limited diagnostic modalities for Cystinosis in developing countries could account for the lack of previously reported cases in these populations carrying this allele. Further, our findings emphasize the utility of WES to define genetic causes in clinically poorly defined phenotypes and demonstrate the requirement of Copy number variation (CNV) analysis of WES data.

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Genotypic and phenotypic features of the cystinosis patients from the South Eastern part of Turkey

Cited by 3 publications

References 16 publications

Evaluation of Cystinosis Patients and Factors Associated with Chronic Kidney Disease

Evaluation of Cystinosis Patients and Factors Associated with Chronic Kidney Disease

More than tubular dysfunction: cystinosis and kidney outcomes

A 57 kB Genomic Deletion Causing CTNS Loss of Function Contributes to the CTNS Mutational Spectrum in the Middle East

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