Growth and bone mineral density in a child with X-linked hypophosphatemic rickets: Early response to treatment

1999 ◽  
Vol 17 (2) ◽  
pp. 137-140
Author(s):  
Toshihiro Sugiyama ◽  
Hiroshi Tanaka ◽  
Shinya Kawai
2017 ◽  
Vol 28 (5) ◽  
pp. 1685-1692 ◽  
Author(s):  
G. P. Colares Neto ◽  
R. M. R. Pereira ◽  
J. C. Alvarenga ◽  
L. Takayama ◽  
M. F. A. Funari ◽  
...  

2001 ◽  
Vol 76 (3) ◽  
pp. S157-S158
Author(s):  
J.A Simon ◽  
J.P Symons ◽  
N.J Kempfert ◽  
M O’Keefe

1991 ◽  
Vol 12 (2) ◽  
pp. 91-100 ◽  
Author(s):  
M.B. Oliveri ◽  
H. Cassinelli ◽  
C. Bergadá ◽  
C.A. Mautalen

2013 ◽  
Vol 2013 ◽  
pp. 1-6 ◽  
Author(s):  
Ilaria Bertoldi ◽  
Georgios Filippou ◽  
Carlo Alberto Scirè ◽  
Valentina Picerno ◽  
Valentina di Sabatino ◽  
...  

Background. Bone damage in rheumatoid arthritis (RA) and in psoriatic arthritis (PsA) includes an accelerated bone mineral density (BMD) reduction. The objective was to evaluate BMD variations of the metacarpophalangeal joints (MCPs) in patients starting treatment with methotrexate (MTX) or etanercept. Methods. Patients affected by RA or PsA with hand joints involvement and with moderate or high disease activity, were enrolled in this study. All patients underwent clinical examination, laboratory exams, and a DXA scan of the most affected hand, as assessed with an ultrasound examination at the baseline, at the time of enrolment and after 1, 3, 6, and 12 months. Patients non-responders to MTX received combination therapy, while patients with no previous treatment initiated MTX. Results. 22 patients were enrolled. In both RA and PsA groups, BMD increased independently of the treatment. However, in the patients affected by RA, a slight BMD decrease was observed at the last checkup. Globally, the BMD variations of the MCPs were strongly correlated with the disease activity. At the reduction of DAS28, the scores corresponded an increase of BMD. Conclusions. MCPs BMD is inversely correlated to disease activity. BMD increase seems to be correlated with the response to treatment and not with the drug itself.


Bone ◽  
1992 ◽  
Vol 13 (1) ◽  
pp. 116-116
Author(s):  
A Javaid ◽  
P Woodruf ◽  
J Treasure ◽  
GFM Russell ◽  
JJ Barrett

2021 ◽  
Vol 36 (Supplement_1) ◽  
Author(s):  
Svetlana Papizh ◽  
Larisa Prikhodina ◽  
Ekaterina Nikolaeva

Abstract Background and Aims Hereditary hypophosphatemic rickets with hypercalciuria (HHRH; MIM #241530) is an autosomal recessive renal phosphate-wasting disorder caused by mutations in the SLC34A3/NPT2c gene. HHRH characterized by increased urinary phosphate excretion leading to hypophosphatemic rickets, short stature and elevated serum 1,25(OH)2D levels which result in hypercalciuria leads to nephrocalcinosis/urolithiasis due to enhanced intestinal calcium absorption and reduced PTH-dependent calcium reabsorption in the distal renal tubules. Treatment of HHRH involves administration of oral phosphate supplements alone to normalize of serum phosphate, alkaline phosphatase activity (ALP), PTH levels, urine calcium excretion for prevention of renal calcifications and progression of rickets. Currently there is no consensus on the optimal dose of oral phosphate in patients with HHRH. The aim of the study was to evaluate the efficacy of oral phosphate supplements in Russian cohort of children with HHRH. Method 9 children (7M/2F) with homozygous (n=6) and compound heterozygous (n=3) SLC34A3 mutations from unrelated families were examined. Treatment with oral phosphate supplements was started at the median age of patients 12.0 (IQR: 9.0; 13.0) years. The median dosage of oral phosphate supplements was 14.1 (IQR: 13.8; 14.8) mg/kg/day based on elemental phosphorus. The duration of follow-up was 36.0 (IQR: 16; 49) months. Blood electrolytes levels, ALP, PTH and 24-hour-urine excretion of calcium were evaluated in all children. ALP Z-scores were calculated using age- and sex-specific mean/standard deviation (SD) lab reference data. Bone mineral density with Z-score were measured in lumbar spine and whole body for all patients using a dual energy X-ray absorptiometry device. Molecular genetic analysis was performed in all children using by next generation sequencing. Results The median SD score of height at the first and last follow-up was -1.35 (IQR: -1.8; -0.87) and -1.51 (IQR: -2.0; -0.66) (p=0.6), respectively, short stature had 33.3% (3/9) of patients at first and 44.4% (4/9) at last follow-up (p=0.7). Treatment with low doses of oral phosphate supplements did not led to normalization of serum phosphorus:1.05 (IQR: 0.97; 1.39) vs. 0.93 (IQR: 0.81; 1.27) mmol/l (p=0.13), PTH: 8.3 (IQR: 5.8; 13.8) vs. 12.9 (IQR: 12.0; 16.0) pg/ml (p=0.34), Z-score in lumbar spine: -1.2 (IQR: -2.7; -0.1) vs. -1.8 (IQR: -2.8; -1.1) (p=0.48) and Z-score in total body: -2.1 (IQR -2.6; -1.5) vs. -2.4 (IQR: -3.0; -2.0) (p=0.37). Hypercalciuria had 88.8% (8/9) of children (0.15 (IQR: 0.12; 0.19) mmol/kg/day) at first follow-up and 44.4% (4/9) (0.09 (IQR: 0.08; 0.16) mmol/kg/day) in last examination (p=0.13). ALP blood levels were elevated in all patients (9/9) at first and most recent visit, but ALP Z-score were significant lower at last follow-up: 3.9 (IQR: 1.2; 5.1) vs. 0.57 (IQR: -0.36; 2.1) (p=0.04). There were significant correlations between doses of oral phosphate supplements and ALP Z-score (r=-0.68; p=0.04) and total body Z-score (r=0.78; p=0.03). There was no significant correlations between ALP Z-score and total body Z-score (r=-0.3) or lumbar spine Z-score (r=-0.1). Conclusion The present study demonstrated that treatment of HHRH with low doses (<20 mg/kg/day) of oral phosphorus supplements led to decreasing of ALP Z-score in 7/9 (77.8%) and hypercalciuria in 5/9 (55.6%) of patients. However, that therapy didn’t improve significantly height and severity of rickets, as well didn’t led to normalization of serum phosphorus in children with HHRH. It is therefore conceivable that higher daily doses of phosphate supplements are needed to normalize all clinical and radiological features of disease. Lack of association between ALP Z-score and bone mineral density severity on radiographs limits the value of serum ALP as the indicator of rickets activity.


2001 ◽  
Vol 120 (5) ◽  
pp. A564-A564
Author(s):  
K ISLAM ◽  
S CREECH ◽  
R SOKHI ◽  
R KONDAVEETI ◽  
A NADIR ◽  
...  

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