UpToDate Contents

全文を閲覧するには購読必要です。 To read the full text you will need to subscribe.

1. 遺伝性低リン血症性くる病と腫瘍誘発性骨軟化症hereditary hypophosphatemic rickets and tumor induced osteomalacia [show details]
…etiology and treatment of hereditary hypophosphatemic rickets and tumor-induced osteomalacia (TIO) will be reviewed here. The clinical manifestations and evaluation of rickets and osteomalacia are discussed …
2. 小児におけるくる病の概要overview of rickets in children [show details]
…phosphopenic rickets (hereditary hypophosphatemic rickets with hypercalciuria [HHRH]), the serum concentration of 1,25(OH)₂D may be elevated. The evaluation of a child with clinical signs of rickets should …
3. 小児における低カルシウム血症性くる病の病因および治療etiology and treatment of calcipenic rickets in children [show details]
… These features differ from those encountered in X-linked hypophosphatemic rickets (previously known as X-linked vitamin D-resistant rickets),… indicating genetic dysregulation of vitamin D catabolism. Hereditary resistance to vitamin D (HRVD) was previously called vitamin D-dependent rickets type II and is characterized…
4. 小児や青年のビタミンD不足とビタミンD欠乏症vitamin d insufficiency and deficiency in children and adolescents [show details]
… as calcipenic (hypocalcemic) or hypophosphatemic rickets. The detailed evaluation of a patient with rickets is discussed in a separate topic review.… Hereditary resistance to vitamin D , previously known as vitamin D-dependent rickets type 2,…
5. 骨軟化症の疫学および病因epidemiology and etiology of osteomalacia [show details]
…hypophosphatemia due to one of the hereditary hypophosphatemic rickets syndromes (eg, X-linked hypophosphatemic rickets, autosomal dominant hypophosphatemic rickets) or with tumor-induced osteomalacia …

English Journal

Mutation of SGK3, a Novel Regulator of Renal Phosphate Transport, Causes Autosomal Dominant Hypophosphatemic Rickets.

Cebeci AN, Zou M, BinEssa HA, Alzahrani AS, Al-Rijjal RA, Al-Enezi AF, Al-Mohanna FA, Cavalier E, Meyer BF, Shi Y.
The Journal of clinical endocrinology and metabolism. 2020 Jun;105(6).
Hypophosphatemic rickets (HR) is a group of rare hereditary renal phosphate wasting disorders caused by mutations in PHEX, FGF23, DMP1, ENPP1, CLCN5, SLC9A3R1, SLC34A1, or SLC34A3. A large kindred with 5 HR patients was recruited with dominant inheritance. The study was undertaken to investigate und
PMID 31821448

Digenic Heterozygous Mutations in SLC34A3 and SLC34A1 Cause Dominant Hypophosphatemic Rickets with Hypercalciuria.

Gordon RJ, Li D, Doyle D, Zaritsky J, Levine MA.
The Journal of clinical endocrinology and metabolism. 2020 Apr;().
Hypophosphatemia and metabolic bone disease are associated with Hereditary Hypophosphatemic Rickets with Hypercalciuria (HHRH) due to biallelic mutations of SLC34A3 encoding the NPT2C sodium-phosphate cotransporter and Nephrolithiasis/osteoporosis, hypophosphatemic 1 (NPHLOP1) due to monoallelic m
PMID 32311027

Familial hypophosphatemic rickets caused by a PHEX gene mutation accompanied by a NPR2 missense mutation.

Zhao Y, Yang F, Wang L, Che H.
Journal of pediatric endocrinology & metabolism : JPEM. 2020 Feb;33(2)305-311.
Background Familial hypophosphatemic rickets, which is usually acknowledged as X-linked hypophosphatemic rickets (XLH), is a rare hereditary disease. XLH caused by mutations in the PHEX gene often manifests as growth retardation, skeletal deformities, osteodynia and dental dysplasia. NPR2 mutations
PMID 31927522