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Article
Open AccessFamilial focal segmental glomerulosclerosis with Alport-like glomerular basement changes caused by paired box protein 2 gene variant
Paired box protein 2 (PAX2) gene variant causes renal coloboma syndrome (MIM#120330). Further, they are associated with focal segmental glomerulosclerosis and characterized by basement membrane changes similar to...
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Article
A child with TSC2/PKD1 contiguous gene deletion syndrome successfully treated with tolvaptan for rapidly enlarging renal cysts
Tolvaptan, a vasopressin receptor antagonist, has been shown to be effective in the treatment of renal cysts in ADPKD. However, tolvaptan is not indicated for pediatric patients, and reports of its use are rar...
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Article
Open AccessSelf-Administration of Burosumab in Children and Adults with X-Linked Hypophosphataemia in Two Open-Label, Single-Arm Clinical Studies
X-linked hypophosphataemia (XLH) is a rare, genetic renal phosphate-wasting disease, resulting from excess fibroblast growth factor 23 (FGF23) activity, which has a progressive and profound impact on patients ...
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Article
Open AccessThe case of a patient with MIRAGE syndrome with familial dysautonomia-like symptoms
We describe a case of posthumously diagnosed MIRAGE syndrome (Myelodysplasia, Infection, Restriction of growth, Adrenal hypoplasia, Genital problems, and Enteropathy) in a girl with a new pathogenic SAMD9 variant...
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Article
Open AccessPatient-Reported Outcomes from a Randomized, Active-Controlled, Open-Label, Phase 3 Trial of Burosumab Versus Conventional Therapy in Children with X-Linked Hypophosphatemia
Changing to burosumab, a monoclonal antibody targeting fibroblast growth factor 23, significantly improved phosphorus homeostasis, rickets, lower-extremity deformities, mobility, and growth versus continuing o...
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Article
Open AccessFinal adult height in long-term growth hormone-treated achondroplasia patients
The objective of this study was to evaluate the gain in final height of achondroplasia (ACH) patients with long-term growth hormone (GH) treatment. We analyzed medical data of 22 adult patients (8 males and 14...
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Article
Two Japanese familial cases of Caffey disease with and without the common COL1A1 mutation and normal bone density, and review of the literature
Caffey disease, also known as infantile cortical hyperostosis, is a rare bone disease characterized by acute inflammation with swelling of soft tissues and hyperostosis of the outer cortical surface in early i...
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Article
Open AccessAn overgrowth disorder associated with excessive production of cGMP due to a gain-of-function mutation of the natriuretic peptide receptor 2 (NPR2) gene
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Article
Linear nevus sebaceous syndrome with hypophosphatemic rickets with elevated FGF-23
Linear nevus sebaceous syndrome (LNSS) is a rare congenital neuroectodermal disorder characterized by involvement of the skeleton and central nervous system.
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Article
Decrease in serum FGF23 levels after intravenous infusion of pamidronate in patients with osteogenesis imperfecta
Fibroblast growth factor 23 (FGF23) plays a central role in phosphate (P) homeostasis. However, the precise mechanism of how FGF23 secretion is regulated remains to be elucidated. In the present study, we exam...
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Article
Increased type 3 iodothyronine deiodinase activity in a regrown hepatic hemangioma with consumptive hypothyroidism
Infantile hepatic hemangioma with consumptive hypothyroidism is a rare condition.
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Article
Clinical phenotype and endocrinological investigations in a patient with a mutation in the MCT8 thyroid hormone transporter
Thyroid hormones are known to be essential for growth, development, and metabolism. Recently, the monocarboxylate transporter 8 (MCT8) was identified as a thyroid hormone transporter, and MCT8 mutations have been...
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Article
Efficacy of growth hormone therapy for patients with skeletal dysplasia
Most patients with skeletal dysplasia show severe short stature. Surgical therapy has been attempted to correct bone deformities, but therapy for improving their severe short stature has been rarely attempted....
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Article
SHIP-deficient mice are severely osteoporotic due to increased numbers of hyper-resorptive osteoclasts
The hematopoietic-restricted protein Src homology 2–containing inositol-5-phosphatase (SHIP) blunts phosphatidylinositol-3-kinase-initiated signaling by dephosphorylating its major substrate, phosphatidylinosi...
