Supplementum 3+4/2007 - Společnost pro pojivové tkáně

in severe cases. More objective method
looked like measurement of thickness of
skin folds and circumference of arm.
Comparison of length of lower extremities
due to fractures of femur and shin
showed that one fracture didn´t cause
shortening of the leg. Platyspondyly was
often found together with fractures of
vertebrae and codfish shaped vertebrae.
The variability of trunk length within the
same type of OI explained the occurrence
of platyspondyly the best. The variability
in body height among patients with the
same type of OI explained 3 parameters:
Presence of platyspondyly, deformity of
ribs (in coincidence with trunk deformity)
and dentinogenesis imperfecta. Other
parameters were not helpful. We also
tested the relation between body height
and markers of bone metabolism taken
from the first examination without the
medicamentous intervention. We didn´t
prove any statistical relations among
body height and alkaline phosphatase,
bone alkaline phosphatase and osteocalcin.
Deoxypyridinolin showed (on the
base of model of logical regression) that
people with OI and shorter stature had
got higher deoxypyridinolin level more
often.
Discussion
The type of OI determines the severity
and progress of the disease. It reflects
the rate of bone structural involvement
and tells us how often the fractures and
microfractures which cause the deformities
will occur.
The wide variability in clinical features
and heterogenity with various expression
and penetrance in molecular genetic
picture of OI is the reason why it hasn´t
been possible to distinguish the phenotype
manifestation on the fundament of
particular gene mutation. It is obvious
that some other genes and the interaction
of mutated collagen and other extra-cellular
proteins play the role in final phenotypic
outcome (1 – Cetta 2000). Because of
that the diagnostics of OI is still based on
clinical, radiological and anthropometric
manifestation.
The results of auxological parameters
give a true picture of changes of body proportionality
within types of OI and bring
a range of information which weren´t in
this form presented in foreign literature
in the world before. Anthropometric
parameters can be useful in differential
diagnostics among OI types (especially
between type I and IV). We affirm that
the new dividing of types according to
the new classification better give a true
picture of involvement and the groups
are homogenous.
Because the causal therapy is in the
phase of investigation the method of choice
is symptomatic therapy (medicamentous
with antiresorptive drugs, orthotic
treatment, surgery and physiotherapy).
Modern trend in treatment is intravenous
bisphosphonate therapy in infants and
small children as soon as the diagnosis is
built up (9 – Rauch 2003). Clinical experiences
with mentioned therapy methods
affirm the increase of quality of lives of
our patients.
Comprehensive treatment of fractures,
deformities of long bones and spine
including the medicamentous therapy
on the base of repeated laboratory
and densitometry examinations is indicated
individually and realized by the
team of Ambulant Centre for Defects of
Locomotor Apparatus in Prague 3.
328 The 9 th Prague-Sydney-Lublin Symposium