Literature DB >> 9152296

Infantile hypophosphatasia: treatment options to control hypercalcemia, hypercalciuria, and chronic bone demineralization.

J P Barcia1, C F Strife, C B Langman.   

Abstract

A 2-month-old child with infantile hypophosphatasia had hypercalcemia (3.49 mmol/L (14 mg/dl)), nephrocalcinosis, and diminished bone mineral content. Hypercalcemia was corrected with calcitonin. Hypercalciuria and bone demineralization abated with chlorothiazide. Hypercalcemia is hypothesized to be related to normal bone resorption in conjunction with impaired bone mineralization. Chlorothiazide may alleviate this impairment.

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Year:  1997        PMID: 9152296     DOI: 10.1016/s0022-3476(97)80029-7

Source DB:  PubMed          Journal:  J Pediatr        ISSN: 0022-3476            Impact factor:   4.406


  13 in total

1.  Alkaline phosphatase knock-out mice recapitulate the metabolic and skeletal defects of infantile hypophosphatasia.

Authors:  K N Fedde; L Blair; J Silverstein; S P Coburn; L M Ryan; R S Weinstein; K Waymire; S Narisawa; J L Millán; G R MacGregor; M P Whyte
Journal:  J Bone Miner Res       Date:  1999-12       Impact factor: 6.741

2.  Common mutations F310L and T1559del in the tissue-nonspecific alkaline phosphatase gene are related to distinct phenotypes in Japanese patients with hypophosphatasia.

Authors:  Toshimi Michigami; Takayuki Uchihashi; Akira Suzuki; Kanako Tachikawa; Shigeo Nakajima; Keiichi Ozono
Journal:  Eur J Pediatr       Date:  2005-01-20       Impact factor: 3.183

Review 3.  Hypophosphatasia - aetiology, nosology, pathogenesis, diagnosis and treatment.

Authors:  Michael P Whyte
Journal:  Nat Rev Endocrinol       Date:  2016-02-19       Impact factor: 43.330

4.  Ionomycin ameliorates hypophosphatasia via rescuing alkaline phosphatase deficiency-mediated L-type Ca2+ channel internalization in mesenchymal stem cells.

Authors:  Bei Li; Xiaoning He; Zhiwei Dong; Kun Xuan; Wei Sun; Li Gao; Shiyu Liu; Wenjia Liu; Chenghu Hu; Yimin Zhao; Songtao Shi; Yan Jin
Journal:  Bone Res       Date:  2020-04-26       Impact factor: 13.567

5.  Resolution of medullary nephrocalcinosis in children with metabolic bone disorders.

Authors:  Ari Auron; Uri S Alon
Journal:  Pediatr Nephrol       Date:  2005-06-23       Impact factor: 3.714

6.  Infantile hypophosphatasia secondary to a novel compound heterozygous mutation presenting with pyridoxine-responsive seizures.

Authors:  Dina Belachew; Traci Kazmerski; Ingrid Libman; Amy C Goldstein; Susan T Stevens; Stephanie Deward; Jerry Vockley; Mark A Sperling; Arcangela L Balest
Journal:  JIMD Rep       Date:  2013-03-12

Review 7.  Progress in Understanding the Genetics of Calcium-Containing Nephrolithiasis.

Authors:  John A Sayer
Journal:  J Am Soc Nephrol       Date:  2016-12-08       Impact factor: 10.121

8.  Hypophosphatasia presenting with pyridoxine-responsive seizures, hypercalcemia, and pseudotumor cerebri: case report.

Authors:  Hüseyin Demirbilek; Yasemin Alanay; Ayfer Alikaşifoğlu; Meral Topçu; Etienne Mornet; Nazlı Gönç; Alev Özön; Nurgün Kandemir
Journal:  J Clin Res Pediatr Endocrinol       Date:  2012-03

9.  Perinatal Hypophosphatasia in a Premature Infant.

Authors:  Deepika Sankaran; Praveen K Chandrasekharan; Munmun Rawat
Journal:  AJP Rep       Date:  2020-04-15

10.  Could Alerting Physicians for Low Alkaline Phosphatase Levels Be Helpful in Early Diagnosis of Hypophosphatasia?

Authors:  Asma Deeb; Abubaker Elfatih
Journal:  J Clin Res Pediatr Endocrinol       Date:  2017-08-02
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