OSTEOPETROSIS GENE DEFECTS DATABASE
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Patient’s initials: …………………..
Date of birth: (DD/MM/YY)
Unique patient number:
Center:
…………………………………
…………………………………..
Referring physician / stamp:
……………………………………………………………………..
Name:
Institution:
Address:
Tel:
FAX:
e-mail:
1. Genetic data (check all those that apply)
 Positive family history Description: ………………………………..………………………………
 Consanguinity
Description: ………………………………..………………………………
 Mutation:
TCIRG□ no
CLCN7:□ no
OSTM1 □ no
□ yes: ………………
□ yes: ………………. □ yes: ………………..
□ not determined
□ not determined
□ not determined
 Other gene mutation:
……………………………………………………………………
 Type of mutation/consequence
Description:
□ homozygous
□ compound heterozygous
□ heterozygous
………………………………….
□□
□□
□□
□□
single AA change
major insertion / deletion
frame shift / stop codon
splice site mutation
2. Clinical status at presentation - (please specify age at first detection of each symptom)
 Hematological defects
□ Leucocytosis
□ Anemia
□ Thrombocytopenia
(age………)
(age………)
(age………)
□ Leucocytopenia
(age………)
□ Transfusion dependent - Ery (age………)
□ Transfusion dependent - Thr (age………)
 Hepatoslenomegaly
Description: ………………………………..………………………………
(age………)
 Bone biopsy
Description: ………………………………..………………………………
(age………)
 Vision impairment
Description: ………………………………..………………………………
□ Atrophy of the optical nerve
□ VEP ………………………
(age………)
 Deafness
□ Acoustic evoked potential ……………………………………………..
(age………)
 Neural defects
Description: ………………………………..………………………………
(age………)
 Growth defect
Description: ………………………………..………………………………
(age………)
 X-ray
Description: ………………………………..………………………………
(age………)
 NMR / CCT
Description: ………………………………..………………………………
(age………)
 Hypocalcemia
Description: ………………………………..………………………………
(age………)
 Breathing problems
□ Choanal stenosis………………………..………………………………
□ Pulmonary hypertension………………..………………………………
(age………)
(age………)
 Other symptoms
Description: ………………………………..………………………………
(age………)
Date of diagnosis: …………………… Age at diagnosis: …………………………
3. Treatment
In case the patient was not transplanted please specify the reasons
………………………………………………………………………………………………………………………………….
3a BMT:
Date of BMT: ……………………
Age at BMT: ……………………..
 Type of donor:
□ genotypic / phenotypic HLA-identical family donor
□ HLA-mismatched family donor (HLA-type don/rec)
□ HLA-matched unrelated donor (HLA-type don/rec)
□ HLA-mismatched unrelated donor (HLA-type don/rec)
□ HLA-haploidentical donor
 Stem cell source: □ PBSC (CD34/CD3 dose/kg, T-cell-depletion / method):
□ BM (NC / kg, preparation method):
□ Cord blood
…………………………………………………………………………………………..
 Conditioning regimen:
………………………………………………………………………………………….
 GVHD-prophylaxis:
………………………………………………………………………………………….
3b BMT course / complications:
 Engraftment at day: …………
WBC > 1000/µl at day:
Granulo.>500/µl at day:
Granulo > 1000/µl at day:
Reticul. > 1% at day:
Thrombo > 50.000/µl at day:
Thrombo > 100.000/µl at day:
 G-CSF until day……
 Last blood transfusion ad day…..
 Rejection (if yes, treatment): ………………………………………………………..
 Acute GvHD (organ/grade): …………………………………………………………
 Chronic GvHD (organ/grade): ……………………………………………………….
 VOD (if yes, describe): ……………………………………………………………….
 Pulmonary complications (if yes, descibe): ………………………………………..
 Other complications (if yes, descibe):
………………………………………………………………………………………….
………………………………………………………………………………………….
3c. Outcome of BMT (clinical)
 Dead
at age
cause (specify)
………………………………………………………………….
 Alive and well, with engraftment
chimerism analysis (date/cells/method):
………………………………………………………………….
 Alive, without engraftment
4. Present clinical status
Date of LFU: ……………………
 Hematological defects
□ Leucocytosis
□ Anemia
□ Thrombocytopenia
Age at LFU: ……………………..
(age………)
(age………)
(age………)
□ Leucocytopenia
(age………)
□ Transfusion dependent - Ery (age………)
□ Transfusion dependent - Thr (age………)
 Hepatoslenomegaly Description: ………………………………..………………………………
(age………)
 Bone biopsy
Description: ………………………………..………………………………
(age………)
 Vision impairment
Description: ………………………………..………………………………
(age………)
□ Atrophy of the optical nerve
 Deafness
□ VEP ………………………
Description: ………………………………..………………………………
(age………)
□ Acoustic evoked potential ………………..
 X-ray
Description: ………………………………..………………………………
(age………)
 NMR / CCT
Description: ………………………………..………………………………
(age………)
 Neural defects
Description: ………………………………..………………………………
(age………)
 Growth defect
Description: ………………………………..………………………………
(age………)
 Other symptoms
Description: ………………………………..………………………………
(age………)
 Mental development Description: ………………………………..………………………………
(age………)
□ Regular school / Kindergarten
□ Special school / Kindergarten
□ No school / Kindergarten possible
 Quality of life (subjective opinion of the parents)
□ normal / good / very good
□ worse than normal
□ very bad
 Comments
Date
Pysician