Hereditary 1,25-Dihydroxyvitamin D Resistant Rickets

Malloy, Peter J.; Pike, J. Wesley; Feldman, David

doi:10.1016/b978-0-12-809963-6.00072-9

Cited by 11 publications

(11 citation statements)

References 204 publications

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“…Two different hereditary deficiencies in vitamin D action were described in the 1960s and 1970s and were named pseudo vitamin D deficiency type I and II or vitamin D-dependent rickets type I and II (85). The first term emphasizes the fact that the clinical, radiological, histological and most of the biochemical features of both diseases are identical to vitamin D deficiency with no history or biochemical evidence of such deficiency, with the exception of an extremely rare form to be (86). Both of these diseases are very rare forms of hypocalcaemic rickets, transmitted as autosomal recessive: the patients are homozygotes and the parents obligate heterozygotes for the mutation (87), although there are some isolated cases that seem to be transmitted as incomplete autosomal dominant.…”

Section: Treatment Of Hereditary Vitamin D-dependent Rickets (Hvddr) mentioning

confidence: 99%

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MANAGEMENT OF ENDOCRINE DISEASE: Therapeutics of vitamin D

Ebeling

Adler

Jones

et al. 2018

European Journal of Endocrinology

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Section: Treatment Of Hereditary Vitamin D-dependent Rickets (Hvddr) mentioning

confidence: 99%

“…HVDDR and HCRR are now understood at the gene level (85,86,87,88,89). HVDDR type I is the end result of different defects in the enzyme 25-hydroxyvitamin D 1-α hydroxylase-causing deficiency of calcitriol and its physiological effects.…”

Section: Treatment Of Hereditary Vitamin D-dependent Rickets (Hvddr) mentioning

confidence: 99%

MANAGEMENT OF ENDOCRINE DISEASE: Therapeutics of vitamin D

Ebeling

Adler

Jones

et al. 2018

European Journal of Endocrinology

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“…(5,(34)(35)(36) Human babies bearing homozygous or compound heterozygous inactivating mutations of CYP27B1 or VDR are also unremarkable at birth and typically do not develop hypocalcemia or rickets until later in the first or second year, respectively. (5,(37)(38)(39)(40)(41)(42)(43)(44)(45)(46)(47)(48) Substitution of a high-calcium diet, or use of parenteral calcium, bypasses the intestinal defect in VDR null babies and allows healing of rickets, as well as maintenance of normal serum minerals, PTH, skeletal morphology, and mineral content. (40,46,47,49) The discrepancy between calcitriol's significant role in children and adults, and its apparent lack of an essential role in skeletal and mineral metabolism before birth, may relate to the intestines being a trivial route of mineral delivery during fetal development (only the amniotic fluid is available to be swallowed).…”

Section: Introductionmentioning

confidence: 99%

“…It is more than 48 hours after birth that severe vitamin D deficiency may cause hypocalcemia, whereas rickets is rarely found in the neonatal period, but instead shows a peak incidence around 18 months of age . Human babies bearing homozygous or compound heterozygous inactivating mutations of CYP27B1 or VDR are also unremarkable at birth and typically do not develop hypocalcemia or rickets until later in the first or second year, respectively . Substitution of a high‐calcium diet, or use of parenteral calcium, bypasses the intestinal defect in VDR null babies and allows healing of rickets, as well as maintenance of normal serum minerals, PTH, skeletal morphology, and mineral content …”

Section: Introductionmentioning

confidence: 99%

Mineral Homeostasis in Murine Fetuses Is Sensitive to Maternal Calcitriol but Not to Absence of Fetal Calcitriol

Ryan

Alhani

Sellars

et al. 2018

Journal of Bone and Mineral Research

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Vitamin D receptor (VDR) null fetuses have normal serum minerals, parathyroid hormone (PTH), skeletal morphology, and mineralization but increased serum calcitriol, placental calcium transport, and placental expression of Pthrp, Trpv6, and (as reported in this study) Pdia3. We examined Cyp27b1 null fetal mice, which do not make calcitriol, to determine if loss of calcitriol has the same consequences as loss of VDR. Cyp27b1 null and wild‐type (WT) females were mated to Cyp27b1+/‐ males, which generated Cyp27b1 null and Cyp27b1+/‐ fetuses from Cyp27b1 null mothers, and Cyp27b1+/‐ and WT fetuses from WT mothers. Cyp27b1 null fetuses had undetectable calcitriol but normal serum calcium and phosphorus, PTH, fibroblast growth factor 23 (FGF23), skeletal mineral content, tibial lengths and morphology, placental calcium transport, and expression of Trpv6 and Pthrp; conversely, placental Pdia3 was downregulated. However, although Cyp27b1+/‐ and null fetuses of Cyp27b1 null mothers were indistinguishable, they had higher serum and amniotic fluid calcium, lower amniotic fluid phosphorus, lower FGF23, and higher 25‐hydroxyvitamin D and 24,25‐dihydroxyvitamin D than in WT and Cyp27b1+/‐ fetuses of WT mothers. In summary, loss of fetal calcitriol did not alter mineral or bone homeostasis, but Cyp27b1 null mothers altered mineral homeostasis in their fetuses independent of fetal genotype. Cyp27b1 null fetuses differ from Vdr null fetuses, possibly through high levels of calcitriol acting on Pdia3 in Vdr nulls to upregulate placental calcium transport and expression of Trpv6 and Pthrp. In conclusion, maternal calcitriol influences fetal mineral metabolism, whereas loss of fetal calcitriol does not. © 2018 American Society for Bone and Mineral Research.

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“…3 (Malloy et al 1999(Malloy et al , 2005. The condition is also known as vitamin D-dependent rickets type 2, hypocalcemic vitamin D-resistant rickets,…”

Section: Introductionmentioning

confidence: 99%

Tooth Development Associated with Mutations in Hereditary Vitamin D–Resistant Rickets

Hanna

Sanjad

Andary³

et al. 2017

JDR Clinical & Translational Research

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Hereditary vitamin Knowledge Transfer Statement: Two novel mutations were associated with different HVDRR phenotypes, one of which responded positively to treatment. Early detection of the mutation should help pediatricians forecast treatment protocol and response. The results also highlight the direct relationship between dental development and blood calcium levels, underscoring the importance of early diagnosis and treatment of HVDRR to minimize the loss of primary teeth and reduce structural abnormalities of permanent teeth.

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Hereditary 1,25-Dihydroxyvitamin D Resistant Rickets

Cited by 11 publications

References 204 publications

MANAGEMENT OF ENDOCRINE DISEASE: Therapeutics of vitamin D

MANAGEMENT OF ENDOCRINE DISEASE: Therapeutics of vitamin D

Mineral Homeostasis in Murine Fetuses Is Sensitive to Maternal Calcitriol but Not to Absence of Fetal Calcitriol

Tooth Development Associated with Mutations in Hereditary Vitamin D–Resistant Rickets

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