Transient neonatal hyperparathyroidism: a presenting feature of sialidosis type II
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, cilt.26, sa.7-8, ss.767-769, 2013 (SCI-Expanded, Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 26 Sayı: 7-8
- Basım Tarihi: 2013
- Doi Numarası: 10.1515/jpem-2012-0329
- Dergi Adı: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
- Sayfa Sayıları: ss.767-769
- Anahtar Kelimeler: hyperparathyroidism, neonate, sialidosis type 2, MUCOLIPIDOSIS TYPE-II, CELL DISEASE
- Ankara Üniversitesi Adresli: Evet
Özet
Sialidosis is a lysosomal storage disease caused by deficiency of alpha-N-acetyl neuraminidase-1. Sialidosis is classified into two main clinical variants: type I, the milder form of the disease, and type II, which can in turn be subdivided into three forms: congenital, infantile, and juvenile. We report a female patient with sialidosis type II, presenting with the congenital form of the disease with thrombocytopenia, pulmonary interstitial thickening, and transient secondary neonatal hyperparathyroidism.