Long-term endocrinologic complications of cystinosis.
OBJECTIVE
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.


CONCLUSIONS
Endocrinologic complications of cystinosis can be seen in pediatric population and it is important to understand underlying mechanisms.
Hacettepe University of Medicine Department of Pediatrics, Ankara, Turkey - aysegultek@yahoo.com.
A
A
Gultekingil Keser
R
R
Topaloglu
Y
Y
Bilginer
N
N
Besbas
D000293:Adolescent; D000328:Adult; D015415:Biomarkers / Q000378:metabolism; D002648:Child; D002675:Child, Preschool; D003553:Cystine / Q000378:metabolism; D003554:Cystinosis / Q000150:complications* / Q000175:diagnosis* / Q000378:metabolism; D003920:Diabetes Mellitus / Q000209:etiology; D004392:Dwarfism / Q000209:etiology; D005260:Female; D005500:Follow-Up Studies; D018149:Glucose Intolerance / Q000209:etiology; D006785:Hospitals, University; D006801:Humans; D007037:Hypothyroidism / Q000209:etiology; D008297:Male; D011628:Puberty, Delayed / Q000209:etiology; D012189:Retrospective Studies; D013997:Time Factors
D015415:Biomarkers; D003553:Cystine