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Genotype and clinical course in 2 Chinese Han siblings with Wilson disease presenting with isolated disabling premature osteoarthritis: A case report.

Abstract Premature osteoarthritis (POA) is a rare condition in Wilson disease (WD). Particularly, when POA is the only complaint of a WD patient for a long time, there would be misdiagnosis or missed diagnosis and then treatment delay.
PMID
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Authors

Mayor MeshTerms

Diagnostic Errors

Hepatolenticular Degeneration

Osteoarthritis

Siblings

Time-to-Treatment

Keywords
Journal Title medicine
Publication Year Start




PMID- 29381936
OWN - NLM
STAT- MEDLINE
DCOM- 20180208
LR  - 20180208
IS  - 1536-5964 (Electronic)
IS  - 0025-7974 (Linking)
VI  - 96
IP  - 47
DP  - 2017 Nov
TI  - Genotype and clinical course in 2 Chinese Han siblings with Wilson disease
      presenting with isolated disabling premature osteoarthritis: A case report.
PG  - e8641
LID - 10.1097/MD.0000000000008641 [doi]
AB  - RATIONALE: Premature osteoarthritis (POA) is a rare condition in Wilson disease
      (WD). Particularly, when POA is the only complaint of a WD patient for a long
      time, there would be misdiagnosis or missed diagnosis and then treatment delay.
      PATIENT CONCERNS AND DIAGNOSIS: Two Chinese Han siblings were diagnosed as WD by 
      corneal K-F rings, laboratory test, and mutation analysis. They presented with
      isolated POA during the first 2 decades or more of their disease course, and were
      of missed diagnosis during that long time. The older affected sib became disabled
      due to his severe osteoarthritis when he was as young as 38 years old. Two
      compound heterozygous pathogenic variants c.2790_2792del and c.2621C>T were
      revealed in the ATP7B gene through targeted next-generation sequencing (NGS).
      LESSONS: Adolescent-onset POA could be the only complaint of WD individual for at
      least 2 decades. Long delay in the treatment of WD's POA could lead to disability
      in early adulthood. Detailed physical examination, special biochemical test, and 
      genotyping through targeted NGS should greatly reduce diagnosis delay in atypical
      WD patients with isolated POA phenotype.
CI  - Copyright (c) 2017 The Authors. Published by Wolters Kluwer Health, Inc. All
      rights reserved.
FAU - Ye, Siyuan
AU  - Ye S
AD  - Department of Neurology, Tianjin Huanhu Hospital.
AD  - Tianjin Key Laboratory of Cerebral Vascular and Neurodegenerative Diseases,
      Tianjin.
FAU - Dai, Tingjun
AU  - Dai T
AD  - Department of Neurology, Qilu Hospital of Shandong University, Jinan.
FAU - Leng, Bingquan
AU  - Leng B
AD  - Department of Neurology, Central Hospital of Rizhao, Rizhao, China.
FAU - Tang, Lei
AU  - Tang L
AD  - Department of Neurology, Qilu Hospital of Shandong University, Jinan.
FAU - Jin, Liang
AU  - Jin L
AD  - Department of Neurology, Qilu Hospital of Shandong University, Jinan.
FAU - Cao, Lili
AU  - Cao L
AD  - Department of Neurology, Qilu Hospital of Shandong University, Jinan.
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - United States
TA  - Medicine (Baltimore)
JT  - Medicine
JID - 2985248R
RN  - EC 3.6.3.54 (ATP7B protein, human)
RN  - EC 3.6.3.54 (Copper-transporting ATPases)
SB  - AIM
SB  - IM
MH  - Adult
MH  - Age of Onset
MH  - China
MH  - Copper-transporting ATPases/*genetics
MH  - Delayed Diagnosis/adverse effects/prevention & control
MH  - *Diagnostic Errors/adverse effects/prevention & control
MH  - Disability Evaluation
MH  - Disease Progression
MH  - *Hepatolenticular Degeneration/complications/genetics/physiopathology
MH  - Humans
MH  - Male
MH  - Medical History Taking
MH  - Mutation
MH  - *Osteoarthritis/diagnosis/etiology/physiopathology/prevention & control
MH  - Severity of Illness Index
MH  - *Siblings
MH  - *Time-to-Treatment
PMC - PMC5708935
EDAT- 2018/02/01 06:00
MHDA- 2018/02/09 06:00
CRDT- 2018/02/01 06:00
PHST- 2018/02/01 06:00 [entrez]
PHST- 2018/02/01 06:00 [pubmed]
PHST- 2018/02/09 06:00 [medline]
AID - 10.1097/MD.0000000000008641 [doi]
AID - 00005792-201711270-00027 [pii]
PST - ppublish
SO  - Medicine (Baltimore). 2017 Nov;96(47):e8641. doi: 10.1097/MD.0000000000008641.