Results 141 to 150 of about 2,043 (190)

Familial Glucocorticoid Deficiency in a Girl With Familial Hypophosphatemic Rickets

Archives of Pediatrics & Adolescent Medicine, 1988
Familial glucocorticoid deficiency is a rare multisystem disorder characterized by glucocorticoid deficiency with normal mineralocorticoid activity, achalasia of the cardia, and alacrima. Familial hypophosphatemic rickets is characterized by selective renal phosphate wasting with subsequent hypophosphatemia and an inappropriately low 1,25 ...
B R, Shah, I, Fiordalisi, K, Sheinbaum, L, Finberg   +3 more
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Phosphate homeostasis and genetic mutations of familial hypophosphatemic rickets

Journal of Pediatric Endocrinology and Metabolism, 2015
AbstractHypophosphatemic rickets (HR) is a syndrome of hypophosphatemia and rickets that resembles vitamin D deficiency, which is caused by malfunction of renal tubules in phosphate reabsorption. Phosphate is an essential mineral, which is important for bone and tooth structure.
Razali, Nurul Nadirah, Ting, Tzer Hwu, Karrupiah, Thilakavathy   +2 more
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Familial hypophosphatemic rickets with proximal renal tubular acidosis

Journal of Bone and Mineral Metabolism, 1990
We have experienced 3 case of familial hypophosphatemic rickets with proximal renal tubular acidosis. Consisting of a family of 2 years old girl, 7 months old girl baby and their father aged 42 years. Roentgenological studies, biochemical tests on blood and renal function tests revealed hypophosphatemia in all these patients.
Youichi Koide, Kazuhiro Kushida, Yoshihiko Sumi, Masashi Denda, Kaoru Yamazaki, Tetsuo Inoue, Kuniaki Katayama, Kiyohito Saito, Youichi Kobayashi   +8 more
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Clinical approach in familial hypophosphatemic rickets: report of three generations

Special Care in Dentistry, 2012
ABSTRACTFamilial hypophosphatemic rickets is a hereditary disease characterized by the involvement of several family members, transmitted in most cases as an X‐linked dominant trait. Oral manifestations can be the first evidences for an adequate and early diagnosis of X‐linked hypophosphatemic rickets (XLHR).
Eduardo Costa Studart, Soares, Fábio Wildson Gurgel, Costa, Thyciana Rodrigues, Ribeiro, Ana Paula Negreiros Nunes, Alves, Cristiane Sá Roriz, Fonteles   +4 more
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Parathyroid Hormone Status and Renal Responsiveness in Familial Hypophosphatemic Rickets

The Journal of Clinical Endocrinology & Metabolism, 1975
Basal serum and urinary biochemical parameters and their response to PTH or calcium infusion were examined in 14 untreated patients with familial hypophosphatemic rickets (FHR) from 5 kindreds and 9 normal control subjects after a period of dietary equilibration.
T J, Hahn, C R, Scharp, L R, Halstead, J G, Haddad, D M, Karl, L V, Avioli   +5 more
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FAMILIAL HYPOPHOSPHATEMIC VITAMIN D RESISTANT RICKETS

Acta Paediatrica, 1969
SummarySurvey of all available data of infants with familial hypophosphatemia vitamin D resistant rickets observed partially or throughout the first year of life indicates that hypophosphatemia begins in the neonatal period regardless of whether or not the mother had been treated with vitamin D in high doses.
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[Surgical treatment of familial hypophosphatemic rickets].

Chirurgia narzadow ruchu i ortopedia polska, 1995
In 20 children with tibial and femoral bones deformities due to hypophosphatemic rickets a corrective osteotomy/osteoclasis at 2 or 4 sites was performed. Both preoperative and postoperative pharmacological treatment was introduced. Good results were achieved in 13 cases, satisfactory an 4 and bad in 3 cases.
K, Rapała, D, Tylman, K, Stepień, I, Pomierna   +3 more
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FGF23 analysis of a Chinese family with autosomal dominant hypophosphatemic rickets

Journal of Bone and Mineral Metabolism, 2011
Autosomal dominant hypophosphatemic rickets (ADHR; MIM 193100) is a hereditary disorder characterized by isolated renal phosphate wasting, hypophosphatemia, and inappropriately normal 1,25-dihydroxyvitamin D(3) levels. Recent studies have shown that the fibroblast growth factor 23 (FGF23) gene is responsible for this disease.
Yue, Sun, Ou, Wang, Weibo, Xia, Yan, Jiang, Mei, Li, Xiaoping, Xing, Yingying, Hu, Huaicheng, Liu, Xunwu, Meng, Xueying, Zhou   +9 more
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[Familial hypophosphatemic rickets].

Orvosi hetilap, 2002
Familiar hypophosphatemic rickets (FHR) is characterized by isolated defect of renal phosphate reabsorption, hypophosphataemia, rickets and poor growth. In untreated cases parathyroid hormone and calcitriol levels are normal. FHR is caused by mutations of the PHEX gene encoding a zinc-binding metalloprotease enzyme.
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Genetic analysis of three families with X-linked dominant hypophosphatemic rickets

Journal of Pediatric Endocrinology and Metabolism, 2018
Abstract Background Hypophosphatemic rickets, including familial hypophosphatemic vitamin D-resistant rickets, which commonly manifests in childhood, is generally hereditary. X-linked dominant hypophosphatemic rickets (XLH, MIM307800), caused by inactivating mutations in the PHEX gene, is the most ...
Xinfu Lin, Yaobin Zhu, Jiewei Luo, Jianbin Huang   +3 more
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