endocrine system;
gastrointestinal system;
musculoskeletal and joint disorders;
renal system;
MINERAL DENSITY;
OSTEOPOROSIS;
ZINC;
D O I:
10.1136/bcr-2022-252290
中图分类号:
R5 [内科学];
学科分类号:
1002 ;
100201 ;
摘要:
We report a short-statured, young man in his 20s presenting with bilateral cataract, recurrent kidney stones, history of refractory rickets and bone deformity. He had been consuming calcium and vitamin D supplements and had been operated for cataract and renal stone disease, prior to reporting in our clinic without any significant laboratory or clinical improvement. The patient was diagnosed as having Fanconi's syndrome attributable to Wilson's disease. This patient highlights that in case of resistant rickets, a high index of suspicion must be invoked for Wilson's disease. Timely recognition of this entity results in prompt ministrations and prevention of disability.
机构:
Metrowest Med Ctr, Dept Internal Med, 115 Lincoln St, Framingham, MA 01702 USAMetrowest Med Ctr, Dept Internal Med, 115 Lincoln St, Framingham, MA 01702 USA
Chenbhanich, J.
;
Thongprayoon, C.
论文数: 0引用数: 0
h-index: 0
机构:
Bassett Med Ctr, Dept Internal Med, Cooperstown, NY USAMetrowest Med Ctr, Dept Internal Med, 115 Lincoln St, Framingham, MA 01702 USA
Thongprayoon, C.
;
Atsawarungruangkit, A.
论文数: 0引用数: 0
h-index: 0
机构:
Metrowest Med Ctr, Dept Internal Med, 115 Lincoln St, Framingham, MA 01702 USAMetrowest Med Ctr, Dept Internal Med, 115 Lincoln St, Framingham, MA 01702 USA
Atsawarungruangkit, A.
;
Phupitakphol, T.
论文数: 0引用数: 0
h-index: 0
机构:
Metrowest Med Ctr, Dept Internal Med, 115 Lincoln St, Framingham, MA 01702 USAMetrowest Med Ctr, Dept Internal Med, 115 Lincoln St, Framingham, MA 01702 USA
机构:
Metrowest Med Ctr, Dept Internal Med, 115 Lincoln St, Framingham, MA 01702 USAMetrowest Med Ctr, Dept Internal Med, 115 Lincoln St, Framingham, MA 01702 USA
Chenbhanich, J.
;
Thongprayoon, C.
论文数: 0引用数: 0
h-index: 0
机构:
Bassett Med Ctr, Dept Internal Med, Cooperstown, NY USAMetrowest Med Ctr, Dept Internal Med, 115 Lincoln St, Framingham, MA 01702 USA
Thongprayoon, C.
;
Atsawarungruangkit, A.
论文数: 0引用数: 0
h-index: 0
机构:
Metrowest Med Ctr, Dept Internal Med, 115 Lincoln St, Framingham, MA 01702 USAMetrowest Med Ctr, Dept Internal Med, 115 Lincoln St, Framingham, MA 01702 USA
Atsawarungruangkit, A.
;
Phupitakphol, T.
论文数: 0引用数: 0
h-index: 0
机构:
Metrowest Med Ctr, Dept Internal Med, 115 Lincoln St, Framingham, MA 01702 USAMetrowest Med Ctr, Dept Internal Med, 115 Lincoln St, Framingham, MA 01702 USA