scholarly journals FGF23-related hypophosphatemic rickets/osteomalacia: diagnosis and new treatment

2020 ◽  
Author(s):  
Seiji Fukumoto
Keyword(s):  
Vitamin D ◽  
Human Monoclonal Antibody ◽  
Complete Removal ◽  
Hypophosphatemic Rickets ◽  
Long Term Effects ◽  
Novel Therapy ◽  
First Choice ◽  
Proximal Tubular ◽  
New Treatment

FGF23 is a phosphaturic hormone produced by bone. FGF23 reduces serum phosphate by suppressing proximal tubular phosphate reabsorption and intestinal phosphate absorption. After the identification of FGF23, several kinds of hypophosphatemic rickets/osteomalacia such as X-linked hypophosphatemia (XLH) and tumor-induced osteomalacia (TIO) have been shown to be caused by excessive actions of FGF23. Circulatory FGF23 is high in patients with these hypophosphatemic diseases while FGF23 is rather low in those with chronic hypophosphatemia from other causes such as vitamin D deficiency. These results indicate that FGF23 measurement is useful for the differential diagnosis of hypophosphatemia. Chemiluminescent enzyme immunoassay for FGF23 has been approved for clinical use in Japan. The first choice treatment for patients with TIO is complete removal of responsible tumors. However, it is not always possible to find and completely remove responsible tumors. Phosphate and active vitamin D have been used for patients with hypophosphatemic diseases caused by excessive actions of FGF23 including TIO patients with unresectable tumors. However, these medications have limited effects and several adverse events. The inhibition of excessive FGF23 actions has been considered to be a novel therapy for these hypophosphatemic diseases. Human monoclonal antibody for FGF23, burosumab, has been shown to improve biochemical abnormalities, roentgenological signs of rickets, growth, fracture healing and impaired mineralization in patients with XLH. Burosumab has been approved in several countries including Europe, North America and Japan. Long-term effects of burosumab need to be addressed in future studies.

Long-term effects of vitamin D deficiency on gait and balance in the older adults

2020 ◽  
Vol 39 (12) ◽  
pp. 3756-3762
Author(s):  
Zehra Yagmur Sahin Alak ◽  
Esra Ates Bulut ◽  
Ozge Dokuzlar ◽  
Idil Yavuz ◽  
Pinar Soysal ◽  
...  
Keyword(s):  
Older Adults ◽  
Vitamin D ◽  
Vitamin D Deficiency ◽  
Long Term Effects

Vitamin D in pregnancy and breastfeeding

2015 ◽  
Author(s):  
Sir Peter Gluckman ◽  
Mark Hanson ◽  
Chong Yap Seng ◽  
Anne Bardsley
Keyword(s):  
Vitamin D ◽  
Uv Light ◽  
Sun Exposure ◽  
Food Sources ◽  
Long Term Effects ◽  
Blood Glucose Homeostasis ◽  
Skeletal Effects ◽  
Adverse Pregnancy ◽  
In Pregnancy

Vitamin D, which is synthesized in skin exposed to UV light, or is consumed in the diet, plays a key role in maintaining bone integrity via the regulation of calcium and phosphorus homeostasis. It also influences a number of extra-skeletal processes, including immune function and blood glucose homeostasis. Maternal vitamin D deficiency in pregnancy leads to poor fetal skeletal mineralization in utero that can manifest as rickets in newborns. In addition to skeletal effects, women with very low vitamin D status face increased risks of other adverse pregnancy outcomes and possible long-term effects on their own health and that of their offspring. However, controversy remains over definitions of vitamin D sufficiency and deficiency, complicating recommendations on maternal intakes. At a minimum, all pregnant women should take a supplement of 400 IU/day, in addition to sensible sun exposure and increasing their intake of food sources.

scholarly journals Denosumab: A potential new treatment option for recurrent Aneurysmal Bone Cyst of the spine

SICOT-J ◽  
2019 ◽  
Vol 5 ◽  
pp. 10 ◽  
Author(s):  
Arvind G. Kulkarni ◽  
Ankit Patel
Keyword(s):  
Local Recurrence ◽  
Human Monoclonal Antibody ◽  
Bone Cyst ◽  
Surgical Excision ◽  
Long Term Results ◽  
Osteolytic Lesions ◽  
Short Period ◽  
New Treatment

ABCs are expansile osteolytic lesions typically containing blood-filled spaces separated by fibrous septae. Standard treatment includes surgical resection or curettage and packing; however, for some spinal lesions, the standard approach is not optimal. One therapeutic strategy is to treat spinal ABC with an agent that targets a pathway that is dysregulated in a disease with similar pathophysiology. Denosumab, a human monoclonal antibody to RANKL is effective in the treatment of GCT's. Spinal ABCs are a therapeutic challenge and local recurrence is a concern. We report a case of aggressive recurrent ABC of dorsal spine in a 14-year old female with progressive neurologic deficit who underwent surgical excision and decompression with a recurrence in a short period for which a decompression and fixation was done. She had a recurrence after an asymptomatic period of 6 months and neurologic worsening. Having ruled out use of embolization and radiotherapy, a remission was achieved by treatment with Denosumab using the regimen for GCTs for a duration of 6 months. Follow-up MRI and CT scans at 24 months following inception of Denosumab depicted complete resolution and no recurrence. We conclude that Denosumab can result in symptomatic and radiological improvement in the recurrent locally aggressive ABC and may be useful in selected cases. Long-term results are mandatory to confirm the efficacy of Denosumab and to evaluate local recurrence after stopping Denosumab.

Creating the Costliest Orphan:The Orphan Drug Act in the Development of Ceredase™

1992 ◽  
Vol 8 (4) ◽  
pp. 583-597 ◽  
Author(s):  
Dana P. Goldman ◽  
Ann E. Clarke ◽  
Alan M. Garber
Keyword(s):  
Orphan Drug ◽  
Cost Effective ◽  
Alternative Therapies ◽  
Long Term Effects ◽  
Gaucher's Disease ◽  
Gaucher’S Disease ◽  
Orphan Drug Act ◽  
Lack Of Information ◽  
New Treatment

AbstractThe FDA recently approved Ceredase™, a new treatment for Gaucher's disease, under the provisions of the Orphan Drug Act. Ceredase™ is unusually expensive, but there are no satisfactory alternative therapies. It appears likely that Ceredase™would not have become available without the protection of the Orphan Drug Act, but its expense and the lack of information about its long-term effects on health raise questions about whether the ODA provides appropriate incentives to develop cost-effective technologies.

Gestational vitamin D deficiency: long-term effects on the brain

2008 ◽  
Vol 66 (12) ◽  
pp. 726-729 ◽  
Author(s):  
Cathy W Levenson ◽  
Silvia M Figueirôa
Keyword(s):  
Vitamin D ◽  
Vitamin D Deficiency ◽  
Long Term Effects ◽  
The Brain

scholarly journals Maternal vitamin D deficiency and developmental origins of health and disease (DOHaD)

2019 ◽  
Vol 241 (2) ◽  
pp. R65-R80 ◽  
Author(s):  
Folami Y Ideraabdullah ◽  
Anthony M Belenchia ◽  
Cheryl S Rosenfeld ◽  
Seth W Kullman ◽  
Megan Knuth ◽  
...  
Keyword(s):  
Vitamin D ◽  
Vitamin D Deficiency ◽  
Later Life ◽  
The Body ◽  
Fetal Life ◽  
Developmental Origins ◽  
Long Term Effects ◽  
Cardiometabolic Disorders ◽  
Health And Disease

Vitamin D is an essential nutrient that is metabolized in the body to generate an active metabolite (1,25(OH)2D) with hormone-like activity and highly diverse roles in cellular function. Vitamin D deficiency (VDD) is a prevalent but easily preventable nutritional disturbance. Emerging evidence demonstrates the importance of sufficient vitamin D concentrations during fetal life with deficiencies leading to long-term effects into adulthood. Here, we provide a detailed review and perspective of evidence for the role of maternal VDD in offspring long-term health, particularly as it relates to developmental origins of health and disease (DOHaD). We focus on the roles in neurobehavioral and cardiometabolic disorders in humans and highlight recent findings from zebrafish and rodent models that probe potential mechanisms linking early life VDD to later life health outcomes. Moreover, we explore evidence implicating epigenetic mechanisms as a mediator of this link. Gaps in our current understanding of how maternal VDD might result in deleterious offspring outcomes later in life are also addressed.

scholarly journals The Long-term Effects of Gastric Bypass on Vitamin D Metabolism

2006 ◽  
Vol 243 (5) ◽  
pp. 701-705 ◽  
Author(s):  
Jason M. Johnson ◽  
James W. Maher ◽  
Eric J. DeMaria ◽  
Robert W. Downs ◽  
Luke G. Wolfe ◽  
...  
Keyword(s):  
Vitamin D ◽  
Gastric Bypass ◽  
Long Term Effects ◽  
Vitamin D Metabolism

Urolithiasis in pregnancy

2016 ◽  
Vol 10 (2) ◽  
pp. 93-104
Author(s):  
Marios Hadjipavlou ◽  
Ali Tasleem ◽  
Francois Dos Santos ◽  
Daron Smith ◽  
Seshadri Sriprasad
Keyword(s):  
Imaging Modality ◽  
Significant Risk ◽  
Pregnant Patient ◽  
Percutaneous Nephrostomy ◽  
Long Term Effects ◽  
Management Options ◽  
First Choice ◽  
Highly Sensitive ◽  
Contrast Ct

Clinicians are faced with multiple diagnostic and treatment challenges when managing pregnant women with urolithiasis. Anatomical and physiological changes during pregnancy have to be taken into account whilst simultaneously considering both the expectant mother and the foetus. Ultrasonography remains the first-choice imaging modality, notwithstanding its potentially poor diagnostic accuracy. There is currently no consensus on second-line investigation for suspected urolithiasis. Low-dose non-contrast CT is highly sensitive, but the long-term effects of ionizing radiation on the foetus remain unknown. As far as treatment is concerned, expectant therapy is the primary option for management in the majority of cases. Percutaneous nephrostomy or ureteric stent placements are safe temporizing measures in relieving an acutely obstructed system and should be expedited in the presence of sepsis. Studies have shown ureteroscopy to be safe and effective during pregnancy with no significant risk to the foetus. It is important for the clinician to explain clearly the risks associated with the investigation and management options to the pregnant patient, including an acknowledgement that some of these remain unquantified, or even unknown.

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