Dual diagnosis of Ochoa syndrome and Niemann-Pick disease type B in a consanguineous family
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, cilt.34, sa.5, ss.653-657, 2021 (SCI-Expanded, Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 34 Sayı: 5
- Basım Tarihi: 2021
- Doi Numarası: 10.1515/jpem-2020-0367
- Dergi Adı: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, BIOSIS, CAB Abstracts, EMBASE, MEDLINE
- Sayfa Sayıları: ss.653-657
- Anahtar Kelimeler: HPSE2, Ochoa syndrome, SMPD1, Urofacial syndrome, ACID SPHINGOMYELINASE DEFICIENCY, UROFACIAL SYNDROME, MUTATIONS, BLADDER
- Ankara Üniversitesi Adresli: Evet
Özet
Objectives: Ochoa syndrome (UFS1; Urofacial syndrome1) is a very rare autosomal recessive disorder caused by mutations in the HPSE2 gene that results bladder voiding dysfunction and somatic motor neuropathy affecting the VIIth cranial nerve. Niemann-Pick disease is a rare autosomal recessive lysosomal storage disorder with systemic involvement resulting from sphingomyelinase deficiency and generally occurs via mutation in the sphingomyelin phosphodiesterase-1 gene (SMPD1).