Cystinosis in Eastern Turkey

Doğan, Murat; Bulan, Keziban; Kaba, Sultan; Cesur, Yaşar; Ceylaner, Serdar; Üstyol, Lokman

doi:10.1515/jpem-2014-0477

Cited by 5 publications

(5 citation statements)

References 23 publications

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“…Moreover, the results of our study showed a slightly increased incidence among the females with a Male: Female ratio of (0.92). Furthermore, the ages of infantile nephropathic cystinosis in our study (ranged 1-12 years, mean= 6.25) were compatible with the studies performed in Turkey [24] (ranged 1.5 -12 years) and the study of Shahkarami et al [25] in Iran (ranged 7 months -11 years). Sequentially, the age of the first presentation in our study was (mean=0.8 year, ranged 0.25-1 year) which was about the same as found in the study of A.Azat [17] in Baghdad (mean = 1.1 years, ranged 0.3-3.5 years).…”

Section: Discussionsupporting

confidence: 91%

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Infantile Nephropathic Cystinosis in Sulaimani Pediatric Teaching Hospital: A Retrospective Cohort Study

Hussein

Salih

Hasan

2018

KJAR

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Cystinosis is a rare metabolic autosomal recessive disorder which characterized by intralysosomal accumulation of cystine. There are three forms; infantile nephropathic is the commonest forms. to evaluate clinical presentations and outcome of infantile cystinosis. A retrospective cohort study conducted in Sulaimani Pediatric Teaching Hospital on 25 patients with infantile cystinosis during May 1, 2014, to June 1, 2017. This study has depended on clinical symptoms and signs, and corneal crystallization for the diagnosis of cystinosis. Gender of the patients was 13 (52%) females and 12 (48%) males. The ages were ranged between (1-12 years) with a mean age of (6.25 years). Eight (32%) patients were from Sulaimani city, but the other 17 (68%) patients were from outside of Sulaimani. Moreover, a 17 (68%) of them were Arabic and the other eight (32%) were Kurdish ethnic groups. The study showed a 20 (80%) positive consanguinity with 19 (76%) positive family history of infantile cystinosis. Additionally, the age of first presentations was between (0.25-2 years) with a mean of (0.8 years). Clinical features included a 100% for polyuria, polydipsia, and failure to thrive. Furthermore, 10 (40%) presented with constipation, 23 (92%) photophobia and 5 (20%) blond hair. Complications included 24 (96%) rickets, 14 (56%) renal insufficiency, 5 (20%) hypothyroidism, 4 (16%) genu valgum, 3 (12%) growth hormone deficiency, and 3 (12%) developed end-stage renal disease. Subsequently, two patients died (8%) due to end-stage renal disease. Finally, there was a statistically significant relationship between both renal insufficiency (P-value = 0.042) and hypothyroidism (P-value < 0.001) with Kurdish ethnicity. Conclusion: Incidence of cystinosis was high among consanguineous parents and those patients who had a positive family history of cystinosis. Furthermore, the delay in diagnosis was due to atypical presentations and unavailability of specific investigations.

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Section: Discussionsupporting

confidence: 91%

“…Renal insufficiency is another complication that occurred in 56% of our patients which is near to the results found by A.Azat [17] (41.3%) and Doğan et al [24] (36.3%). Moreover, Hypothyroidism was 20% in our study while its frequency was 3.44% in the study of A.Azat [17].…”

Section: Discussionsupporting

confidence: 82%

Infantile Nephropathic Cystinosis in Sulaimani Pediatric Teaching Hospital: A Retrospective Cohort Study

Hussein

Salih

Hasan

2018

KJAR

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“…Cystinosis was found to entail significant morbidity and mortality in our cohort, with many patients experiencing myopathy, ESRD, eye complications, and hypothyroidism. This is in line with previously published literature from the MENA region displaying similar complications in cystinosis patients [18][19][20]. In fact, cystinosis has been previously described as the main cause of renal Fanconi syndrome in childhood, hence entailing electrolyte disturbances, glucosuria, and hypochloremic acidosis [21].…”

Section: Discussionsupporting

confidence: 91%

The Clinical Manifestations and Disease Burden of Cystinosis in Saudi Arabia: A Single-Tertiary Center Experience

Algasem,

Zainy,

Alsabban

et al. 2024

Cureus

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Background: There is a lack of regional and local evidence that describes the nature of cystinosis, a multiorgan accumulation of cystine, and its extent of organ damage. Therefore, this study aimed to determine the outcomes of cystinosis in patients who were followed up at a large tertiary care hospital. Methods: Medical records of patients with cystinosis were retrospectively reviewed. Patients' baseline demographics, lab values, medications, comorbidities, and complications were collected and described. Univariable and multivariable logistics regression models were constructed to control for confounders and build prediction models. Results: In our cohort of 39 patients, the mean age was 13.8±9.9 years. Approximately 56.4% of the patients had stunted growth, and the mortality rate was 25.6%. Regarding complications, the majority of patients developed myopathy (79.5%), end-stage renal disease (ESRD) (74.4%), and hypothyroidism (71.8%). Age (odds ratio=1.14, 95% confidence interval (95% CI): 1.012, 1.285) and stunted growth (odds ratio=6.62, 95% CI: 1.024, 42.835) were found to be predictors of renal replacement therapy and renal transplantation, respectively (p<0.047). Conclusion: This study on cystinosis patients reveals a high incidence of renal complications, with a significant mortality rate and common complications such as myopathy and ESRD. Age was found to be an independent risk factor for renal replacement therapy, while stunted growth predicted the need for transplantation. These findings underscore the urgency for early diagnosis, comprehensive treatment, and careful monitoring in managing cystinosis effectively.

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“…Nevertheless, the research conducted by Topaloglu et al 4 reported no notable distinction concerning the occurrence of rickets between individuals with these frequently observed mutations and those with other genetic mutations. While typical clinical presentation in cystinosis involves renal tubular acidosis, our study and the others reported cases where patients presented with a hypokalemic, hypochloremic metabolic alkalosis pattern, resembling Bartter syndrome 12,[17][18][19][20] . The exact cause of metabolic alkalosis is not fully understood.…”

Section: Discussionmentioning

confidence: 87%

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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Cystinosis in Eastern Turkey

Cited by 5 publications

References 23 publications

Infantile Nephropathic Cystinosis in Sulaimani Pediatric Teaching Hospital: A Retrospective Cohort Study

Infantile Nephropathic Cystinosis in Sulaimani Pediatric Teaching Hospital: A Retrospective Cohort Study

The Clinical Manifestations and Disease Burden of Cystinosis in Saudi Arabia: A Single-Tertiary Center Experience

Evaluation of Cystinosis Patients and Factors Associated with Chronic Kidney Disease

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