Izvorni znanstveni članak
https://doi.org/10.3325/cmj.2015.56.145
Polymorphisms of CSF1 and TM7SF4 genes in a case of mild juvenile Paget’s disease found using next-generation sequencing
Judit Donáth
; National Institute of Rheumatology and Physiotherapy,Budapest, Hungary
Gábor Speer
; Policlinic of Hospitaller Brothers of St. John of God, Budapest, Hungary
János P. Kósa
; PentaCore Laboratory, Budapest, Hungary
Kristóf Árvai
; PentaCore Laboratory, Budapest, Hungary
Bernadett Balla
; PentaCore Laboratory, Budapest, Hungary
Péter Juhász
; National Institute of Rheumatology and Physiotherapy, Budapest, Hungary
Péter Lakatos
; PentaCore Laboratory, Budapest, Hungary
Gyula Poór
; National Institute of Rheumatology and Physiotherapy, Budapest, Hungary
Sažetak
Juvenile Paget’s disease (JPD) is a rare autosomal-recessive
condition. It is diagnosed in young children and characterized
by a generalized increase in bone turnover, bone
pain, and skeletal deformity. Our patient was diagnosed
after a pathological fracture when she was 11 years old.
When we first examined her at the age of 30 she had bone
pain and deformity in both the femur and tibia. Serum alkaline
phosphatase (ALP) level, radiology, bone scintigraphy,
and densitometry were monitored. Next generation
sequencing (NGS) technology, namely semiconductor sequencing,
was used to determine the genetic background
of JPD. Seven target genes and regions were selected and
analyzed after literature review (TM7SF4, SQSTM1, TNFRSF11A,
TNFRSF11B, OPTN, CSF1, VCP). No clear pathogenic
mutation was found, but we detected missense polymorphisms
in CSF1 and TM7SF4 genes. After treatment
with zoledronic acid, infusion bone pain and ALP level
decreased. We can conclude that intravenous zoledronic
acid therapy is effective and safe for suppressing bone
turnover and improving symptoms in JPD, but the longterm
effects on clinical outcomes are unclear. Our findings
also suggest that NGS may help explore the pathogenesis
and aid the diagnosis of JPD
Ključne riječi
Hrčak ID:
139306
URI
Datum izdavanja:
15.4.2015.
Posjeta: 964 *