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.
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.
Authors: Francesco Emma; Giovanni Montini; Marco Pennesi; Licia Peruzzi; Enrico Verrina; Bianca Maria Goffredo; Fabrizio Canalini; David Cassiman; Silvia Rossi; Elena Levtchenko Journal: Cells Date: 2022-06-04 Impact factor: 7.666
Authors: Jinzhong Zhang; Jing He; Jennifer L Johnson; Farhana Rahman; Evripidis Gavathiotis; Ana Maria Cuervo; Sergio D Catz Journal: Front Endocrinol (Lausanne) Date: 2019-02-01 Impact factor: 5.555
Authors: Nina O'Connell; Jun Oh; Klaus Arbeiter; Anja Büscher; Dieter Haffner; Jessica Kaufeld; Christine Kurschat; Christoph Mache; Dominik Müller; Ludwig Patzer; Lutz T Weber; Burkhard Tönshoff; Marcus Weitz; Katharina Hohenfellner; Lars Pape Journal: Front Med (Lausanne) Date: 2022-04-25