No abstract available.
Rickets, Hypophosphatemic*

No abstract available.
Rickets, Hypophosphatemic*

No abstract available.
Rickets, Hypophosphatemic*

Hypophosphatemic vitamin D resistant rickets is a form of rickets characterized by typical structural deformities and roentgenographic and metabolic changes. It has a strong familial tendency and appear to be genetically transmitted. Authors experienced 7 patients with hypophosphatemic vitamin D resistant rickets which have been manifested through three generation in a family at Won-Kwang University Hospital from Dec.1982 to May1984. Authors studied hypophosphatemic vitamin D resistant rickets clinically, radiologically, biochemically andpathologically, and reported with review of literatures.
Congenital Abnormalities ; Humans ; Rickets ; Rickets, Hypophosphatemic

Fibrous dysplasia (FD) is sometimes accompanied by extraskeletal manifestations that can include any combination of café-au-lait macules, hyperfunctioning endocrinopathies, such as gonadotropin-independent precocious puberty, hyperthyroidism, growth hormone excess, FGF23-mediated renal phosphate wasting, and/or Cushing’s syndrome, as well as other less common features. The combination of any of these findings, with or without FD, is known as McCune-Albright syndrome (MAS). The broad spectrum of involved tissues and the unpredictable combination of findings is because of a molecular defect due to dominant activating mutations in the widely expressed signalling protein Gsα. These mutations arise sporadically, often early in development, prior to gastrulation and can distribute across many or few tissues.1,2 We present a case of a 3½ year-old-girl who presented simultaneously with precocious puberty and hypophosphatemic rickets, along with fibrous dysplasia and café au lait macules.
Fibrous Dysplasia, Polyostotic ; Puberty, Precocious ; Rickets, Hypophosphatemic

OBJECTIVES: To study the value of serum fibroblast growth factor 23 (FGF23) in the diagnosis of hypophosphatemic rickets in children. METHODS: A total of 28 children who were diagnosed with hypophosphatemic rickets in Children's Hospital of Nanjing Medical University from January 2016 to June 2021 were included as the rickets group. Forty healthy children, matched for sex and age, who attended the Department of Child Healthcare of the hospital were included as the healthy control group. The serum level of FGF23 was compared between the two groups, and the correlations of the serum FGF23 level with clinical characteristics and laboratory test results were analyzed. The value of serum FGF23 in the diagnosis of hypophosphatemic rickets was assessed. RESULTS: The rickets group had a significantly higher serum level of FGF23 than the healthy control group (P<0.05). In the rickets group, the serum FGF23 level was positively correlated with the serum alkaline phosphatase level (r_s=0.38, P<0.05) and was negatively correlated with maximum renal tubular phosphorus uptake/glomerular filtration rate (r_s=-0.64, P<0.05), while it was not correlated with age, height Z-score, sex, and parathyroid hormone (P>0.05). Serum FGF23 had a sensitivity of 0.821, a specificity of 0.925, an optimal cut-off value of 55.77 pg/mL, and an area under the curve of 0.874 in the diagnosis of hypophosphatemic rickets (P<0.05). CONCLUSIONS Serum FGF23 is of valuable in the diagnosis of hypophosphatemic rickets in children, which providing a theoretical basis for early diagnosis of this disease in clinical practice.
Child ; Humans ; Fibroblast Growth Factor-23 ; Fibroblast Growth Factors ; Familial Hypophosphatemic Rickets/diagnosis* ; Rickets, Hypophosphatemic/diagnosis*

Epidermal nevus syndrome is a rare disease consisting of epidermal nevus and multisystem pathologic conditions associated with anomalies in the central nervous system, bone, eye, heart, vasculature and genito-urinary system. Hypophosphatemic rickets has been rarely observed in association with this syndrome. We report a case of hypophosphatemic rickets associated with epidermal nevus syndrome with review of the literature.
Central Nervous System ; Heart ; Nevus* ; Rare Diseases ; Rickets, Hypophosphatemic*

X-linked hypophosphatemic rickets is caused by loss-of-function mutations in PHEX, which encodes a phosphate-regulating endopeptidase homolog. We report a 26-year-old man with X-linked hypophosphatemic rickets who showed decreased serum phosphate accompanied by bilateral genu valgum and short stature. He had received medical treatment with vitamin D (alfacalcidol) and phosphate from the age of 3 to 20 years. He underwent surgery due to valgus deformity at the age of 14 and 15. Targeted gene panel sequencing for Mendelian genes identified a nonsense mutation in PHEX (c.589C>T; p.Gln197Ter) and a mosaic pattern where only 38% of sequence reads showed the variant allele. This mutation was not found in his mother, who had a normal phenotype. This is a case of a sporadic nonsense mutation in PHEX and up to date, this is the first case of a mosaic mutation in PHEX in Korea.
Adult ; Alleles ; Codon, Nonsense ; Congenital Abnormalities ; Familial Hypophosphatemic Rickets ; Genu Valgum ; Humans ; Korea ; Mothers ; Phenotype ; Rickets, Hypophosphatemic* ; Vitamin D

In treatment of Vitamin D-resistant rickets, the authors supplemented supramalleolar stepcut osteotomy for complex deformity of tibia consisted of varus, anterior bowing and intemal torsional supramalleolar level which accompanied severe waddling gait. The results of 10 tibia operations from 5 patients were generally satisfactory in terms of appearance and function.
Congenital Abnormalities ; Gait ; Humans ; Osteotomy ; Rickets ; Rickets, Hypophosphatemic ; Tibia ; Vitamin D ; Vitamins

Oncogenous or tumor-induced rickets is recognized as Vitamin D-resistant hypophosphatemic rickets that heals after excision of a coexisting tumor in either bone or soft tissue. Its pathogenesis is not clarified, but it has been suggested that the tumor elaborates a homoral substance inhibiting tubular reabsorption of phosphate or that the tumor inhibits the synthetic process of 1, 25-dihydroxcholecalciferol. We present two cases of vitamin D-resistant rickets, one associated with intrasseous well-differentiated osteosarcoma in the pelvis and the other associated with fibrosarcoma of distal femur. The case with low grade osteosarcoma showed immediate improvement of rickets after excision of the tumor, but the case with fibrosarcoma showed no improvement after amputation and was fatally terminated 5 months later due to lung metastasis.
Amputation ; Femur ; Fibrosarcoma ; Lung ; Neoplasm Metastasis ; Osteosarcoma ; Pelvis ; Rickets ; Rickets, Hypophosphatemic ; Vitamins