Literature DB >> 27904825

Can acetazolamide be used to treat diseases involving increased bone mineral density?

Juan David González-Rodríguez1, María Isabel Luis-Yanes2, Esther Inglés-Torres1, Pedro Arango-Sancho2, José Eugenio Cabrera-Sevilla1, María Rosario Duque-Fernández2, Salvador Gil-Sánchez1, Víctor Manuel García-Nieto2.   

Abstract

Sclerosing bone dysplasias are a series of clinically and genetically heterogeneous diseases characterized by functional failure of the osteoclasts in bone resorption, leading to an excessive amount of bone mineral density (BMD) which could have serious clinical consequences. We treated three children affected with seriously high levels of BMD with acetazolamide, with the intention of inducing metabolic acidosis, thus increasing bone resorption and reducing BMD. All our patients tolerated and followed the treatment well and the clinical response was satisfactory in all cases.

Entities:  

Keywords:  Acetazolamide; carbonic anhydrase inhibitor; craniometaphyseal dysplasia; osteochondrodysplasia; osteopetrosis; sclerosing bone dysplasia

Year:  2016        PMID: 27904825      PMCID: PMC5116865          DOI: 10.5582/irdr.2016.01067

Source DB:  PubMed          Journal:  Intractable Rare Dis Res        ISSN: 2186-3644


  17 in total

1.  Autosomal dominant craniometaphyseal dysplasia is caused by mutations in the transmembrane protein ANK.

Authors:  E Reichenberger; V Tiziani; S Watanabe; L Park; Y Ueki; C Santanna; S T Baur; R Shiang; D K Grange; P Beighton; J Gardner; H Hamersma; S Sellars; R Ramesar; A C Lidral; A Sommer; C M Raposo do Amaral; R J Gorlin; J B Mulliken; B R Olsen
Journal:  Am J Hum Genet       Date:  2001-04-16       Impact factor: 11.025

Review 2.  Use of inhibitors in physiological studies of carbonic anhydrase.

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3.  Bone histology and bone mineral density after correction of acidosis in distal renal tubular acidosis.

Authors:  Somnuek Domrongkitchaiporn; Cholatip Pongskul; Vorachai Sirikulchayanonta; Wasana Stitchantrakul; Virut Leeprasert; Boonsong Ongphiphadhanakul; Piyanuch Radinahamed; Rajata Rajatanavin
Journal:  Kidney Int       Date:  2002-12       Impact factor: 10.612

4.  Membrane-bound carbonic anhydrases in osteoclasts.

Authors:  Riikka Riihonen; Claudiu T Supuran; Seppo Parkkila; Silvia Pastorekova; H Kalervo Väänänen; Tiina Laitala-Leinonen
Journal:  Bone       Date:  2006-12-22       Impact factor: 4.398

5.  Autosomal dominant osteopetrosis: clinical severity and natural history of 94 subjects with a chloride channel 7 gene mutation.

Authors:  Steven G Waguespack; Siu L Hui; Linda A Dimeglio; Michael J Econs
Journal:  J Clin Endocrinol Metab       Date:  2006-12-12       Impact factor: 5.958

Review 6.  Extracellular pH regulates bone cell function.

Authors:  Timothy R Arnett
Journal:  J Nutr       Date:  2008-02       Impact factor: 4.798

7.  Function of proximal tubule carbonic anhydrase defined by selective inhibition.

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Journal:  Am J Physiol       Date:  1983-10

8.  Effect of chronic carbonic anhydrase inhibitor therapy on bone mineral density in white women.

Authors:  W M Pierce; G F Nardin; M F Fuqua; E Sabah-Maren; S H Stern
Journal:  J Bone Miner Res       Date:  1991-04       Impact factor: 6.741

Review 9.  Biochemical markers for assessing skeletal growth.

Authors:  S P Robins
Journal:  Eur J Clin Nutr       Date:  1994-02       Impact factor: 4.016

Review 10.  Nosology and classification of genetic skeletal disorders: 2010 revision.

Authors:  Matthew L Warman; Valerie Cormier-Daire; Christine Hall; Deborah Krakow; Ralph Lachman; Martine LeMerrer; Geert Mortier; Stefan Mundlos; Gen Nishimura; David L Rimoin; Stephen Robertson; Ravi Savarirayan; David Sillence; Juergen Spranger; Sheila Unger; Bernhard Zabel; Andrea Superti-Furga
Journal:  Am J Med Genet A       Date:  2011-03-15       Impact factor: 2.802

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  2 in total

Review 1.  Genetics of Osteopetrosis.

Authors:  Eleonora Palagano; Ciro Menale; Cristina Sobacchi; Anna Villa
Journal:  Curr Osteoporos Rep       Date:  2018-02       Impact factor: 5.096

Review 2.  The Genetic Architecture of High Bone Mass.

Authors:  Celia L Gregson; Emma L Duncan
Journal:  Front Endocrinol (Lausanne)       Date:  2020-10-29       Impact factor: 5.555

  2 in total

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