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Rivista di Pediatria, Neonatologia, Medicina dell’Adolescenza
e Neuropsichiatria Infantile

Indexed/Abstracted in: CAB, EMBASE, PubMed/MEDLINE, Science Citation Index Expanded (SciSearch), Scopus
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Minerva Pediatrica 2014 April;66(2):123-30

lingua: Inglese

Long-term endocrinologic complications of cystinosis

Gultekingil Keser A. 1, Topaloglu R. 2, Bilginer Y. 2, Besbas N. 2

1 Hacettepe University of Medicine, Department of Pediatrics, Ankara, Turkey;
2 Hacettepe University Faculty of Medicine, Department of Pediatric Nephrology, Ankara, Turkey


AIM: Cystinosis is a rare autosomal recessive disorder that is characterized by defective cystine transport from lysosomes to cytoplasm and cystine crystal accumulation damaging many organs and tissues especially kidneys but extrarenal systems such as endocrine system. We aim to investigate endocrinologic complications of cystinosis
METHODS: In our study, twenty one patients were reviewed retrospectively for endocrinologic complications.
RESULTS: Eighteen (85.7%) had short stature, out of nine patients who reached pubertal age, five (55.5%) had pubertal delay, five patients (23.8%) had overt hypothyroidism and five patients (23.8%) had subclinical hypothyroidism with only elevated thyroid stimulating hormone (TSH) levels, seven (33.3%) had glucose intolerance, two (9.5%) had diabetes mellitus. Relation of these complications to age, renal functions and the dosage of cysteamine were studied.
CONCLUSION: Endocrinologic complications of cystinosis can be seen in pediatric population and it is important to understand underlying mechanisms.

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