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XLH Timeline
Compiled By: Larry
Winger, Ph.D., PGCE
, Scott
Schmitz
& Colin Steeksma
|
Stone Age
|
A prehistoric
skeleton
with signs of familial rickets was discovered by Italian scientists. |
|
1920
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Vitamin D identified as the dietary or sunlight factor involved
in rickets problems
|
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1937
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An inherited form of rickets identified which is not susceptible
to Vitamin D supplementation in diet
|
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1956
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Hypophosphatemia identified as the important X-Linked component
in Vitamin D Resistant Rickets in a study based on families in the Carolinas,
USA.
|
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1950-1960
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High dose Vitamin D used as early therapy
|
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1960-1969
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Phosphate supplements tried in an attempt to normalize blood
phosphate
|
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1960-1969
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Active D3 hormone used in some trials, with unforeseen and
sometimes disastrous side-effects
|
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1975
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Phosphate supplementation and calcitriol co-therapy used
to enhance blood phosphate
|
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1977
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Mice with the hyp mutation identified which appear to have
similar symptoms to those in human XLH
|
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1989
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Professional querying of efficacy of therapy in XLH
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1980-1990
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Consensus holds that therapy with phosphate and calcitriol
has some benefits for some patients, particularly in straightening of
lower limbs, although final height may not be enhanced, and some patients
may not respond
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1995
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Identification of the genetic defect responsible for XLH
(PEX, later termed PHEX) by the Hyp consortium
|
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1996
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Vitamin D 24,25 D3 identified as potentially useful therapy
|
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July 1996
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Vitamin D Metabolism and Rickets web pages created. Colin
Steeksma and Larry Winger collaborate to form an internet-based support
group.
|
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Nov 1996
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St. John's University, New York agrees to host F-HYPDRR
mailing list
|
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Jun 1997
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Theory advanced regarding PHEX chemical biofeedback and
a substance called phosphatonin
|
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Dec 1998
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F-HYPDRR mailing list reaches 100 members (2 years after
list inception)
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Apr 1999
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French study concludes disorder severity does not correlate
with specific XLH mutation.
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Aug 1999
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PHEX mutational database announced
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Sep 1999
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Bone marrow transplantation success announced in hyp mice
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Jul 2000
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Announcement of MEPE compound (identified in rare bone tumors)
as prime phosphatonin candidate
|
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Oct 2000
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F-HYPDRR mailing list reaches 200th member (not quite 4
years after inception)
|
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Sept 2000
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The gene which is affected in Autosomal Dominant Hypophosphatemic
Rickets is identified (FGF23)
|
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Mar 2001
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PHEX is expressed in an active soluble form
|
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Mar-Sep 2001
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A variety of possible contenders for the phosphatonin hormone
are considered
|
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Oct 2001
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Yves Sabbagh, of Montreal, research member of F-HYPDRR,
receives the Young Investigator of the Year award from the American Society
for Bone & Mineral Research
|
| Nov 29, 2004 |
Joan Reed signs the Certificate of Incorporation for The XLH Network Inc. (exactly 8 years after F-HYPDRR list inception) |
| March 2, 2005 |
Official incorporation date in New York for the XLH Network Inc. |
| March 18, 2005 |
The first board of XLH Network Inc is formed. Joan Reed named President. |
| April 24, 2005 |
F-HYPDRR mailing list reaches 500 members (8.5 years after list inception) |
References
X-linked hypophosphatemic rickets: a probable upper
Paleolithic case. 1995. V. Formicola. Am. J. Phys. Anthropol. 98:403-9.
A more extensive timeline is available
here.
Last modified Aug 8, 2007
XLH is also known as X-Linked Hypophosphatemia (sometimes also
spelled as hypophosphataemia), X-Linked Hypophosphatemic Rickets,
Familial Hypophosphatemia, Vitamin D-Resistant Rickets (VDRR)
Rickets and even Genetic Rickets. Its notable characteristics are
bowed legs, short stature, poor teeth formation causing spotaneous
dental abscesses, and low blood phosphorus levels.
© 2002-2007,
The XLH Network Inc.
The authors of this web site are not medical professionals, and this
information does not substitute for medical care. Information on
these pages is based on biomedical research, published in
peer-reviewed journals, and international research conferences.
Additionally, in some cases anecdotal information is provided by
subscribers of the F-HYPDRR group, a mailing list for The XLH Network
Inc. A complete web-site
bibliography
is available. Please read our full
disclaimer.
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