A stone in the bone

Abstract Primary hyperoxaluria (PH) is a group of diseases due to mutations in genes coding for enzymes involved in oxalate metabolism. Three types of PH are identified depending on the gene mutated. Type 1 is the most frequent with 80% of the cases, while PH2 and PH3 are rarer. The severity of rena...

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Autores principales:	Matthieu Halfon, Pierre Cochat, Sebastien Kissling, Nicolas Dattner, Laurence deLeval, Fadi Fakhouri, Menno Pruijm, Olivier Bonny
Formato:	article
Lenguaje:	EN
Publicado:	Wiley 2021
Materias:	bone chronic kidney disease hypercalcemia oxalate oxalosis primary hyperoxaluria Diseases of the endocrine glands. Clinical endocrinology RC648-665 Genetics QH426-470
Acceso en línea:	https://doaj.org/article/267cfe1bc67d4d21bd81b8b38a52cbd5
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id	oai:doaj.org-article:267cfe1bc67d4d21bd81b8b38a52cbd5
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spelling	oai:doaj.org-article:267cfe1bc67d4d21bd81b8b38a52cbd52021-11-08T13:27:18ZA stone in the bone2192-831210.1002/jmd2.12246https://doaj.org/article/267cfe1bc67d4d21bd81b8b38a52cbd52021-11-01T00:00:00Zhttps://doi.org/10.1002/jmd2.12246https://doaj.org/toc/2192-8312Abstract Primary hyperoxaluria (PH) is a group of diseases due to mutations in genes coding for enzymes involved in oxalate metabolism. Three types of PH are identified depending on the gene mutated. Type 1 is the most frequent with 80% of the cases, while PH2 and PH3 are rarer. The severity of renal involvement varies between the three types. Indeed, between 60% and 80% of PH1 but only 20% of PH2 patients will reach end‐stage kidney disease. In PH3 patients, dialysis is uncommon. Because oxalate clearance is impaired in CKD patients, oxalate can precipitate in various organs leading to systemic oxalosis. We report an uncommon presentation of bone oxalosis associated with hypercalcemia in a dialyzed patient. This report emphasizes the difficulties to diagnose primary hyperoxaluria and the challenge of treating dialyzed patients.Matthieu HalfonPierre CochatSebastien KisslingNicolas DattnerLaurence deLevalFadi FakhouriMenno PruijmOlivier BonnyWileyarticlebonechronic kidney diseasehypercalcemiaoxalateoxalosisprimary hyperoxaluriaDiseases of the endocrine glands. Clinical endocrinologyRC648-665GeneticsQH426-470ENJIMD Reports, Vol 62, Iss 1, Pp 6-8 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	bone chronic kidney disease hypercalcemia oxalate oxalosis primary hyperoxaluria Diseases of the endocrine glands. Clinical endocrinology RC648-665 Genetics QH426-470
spellingShingle	bone chronic kidney disease hypercalcemia oxalate oxalosis primary hyperoxaluria Diseases of the endocrine glands. Clinical endocrinology RC648-665 Genetics QH426-470 Matthieu Halfon Pierre Cochat Sebastien Kissling Nicolas Dattner Laurence deLeval Fadi Fakhouri Menno Pruijm Olivier Bonny A stone in the bone
description	Abstract Primary hyperoxaluria (PH) is a group of diseases due to mutations in genes coding for enzymes involved in oxalate metabolism. Three types of PH are identified depending on the gene mutated. Type 1 is the most frequent with 80% of the cases, while PH2 and PH3 are rarer. The severity of renal involvement varies between the three types. Indeed, between 60% and 80% of PH1 but only 20% of PH2 patients will reach end‐stage kidney disease. In PH3 patients, dialysis is uncommon. Because oxalate clearance is impaired in CKD patients, oxalate can precipitate in various organs leading to systemic oxalosis. We report an uncommon presentation of bone oxalosis associated with hypercalcemia in a dialyzed patient. This report emphasizes the difficulties to diagnose primary hyperoxaluria and the challenge of treating dialyzed patients.
format	article
author	Matthieu Halfon Pierre Cochat Sebastien Kissling Nicolas Dattner Laurence deLeval Fadi Fakhouri Menno Pruijm Olivier Bonny
author_facet	Matthieu Halfon Pierre Cochat Sebastien Kissling Nicolas Dattner Laurence deLeval Fadi Fakhouri Menno Pruijm Olivier Bonny
author_sort	Matthieu Halfon
title	A stone in the bone
title_short	A stone in the bone
title_full	A stone in the bone
title_fullStr	A stone in the bone
title_full_unstemmed	A stone in the bone
title_sort	stone in the bone
publisher	Wiley
publishDate	2021
url	https://doaj.org/article/267cfe1bc67d4d21bd81b8b38a52cbd5
work_keys_str_mv	AT matthieuhalfon astoneinthebone AT pierrecochat astoneinthebone AT sebastienkissling astoneinthebone AT nicolasdattner astoneinthebone AT laurencedeleval astoneinthebone AT fadifakhouri astoneinthebone AT mennopruijm astoneinthebone AT olivierbonny astoneinthebone AT matthieuhalfon stoneinthebone AT pierrecochat stoneinthebone AT sebastienkissling stoneinthebone AT nicolasdattner stoneinthebone AT laurencedeleval stoneinthebone AT fadifakhouri stoneinthebone AT mennopruijm stoneinthebone AT olivierbonny stoneinthebone
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A stone in the bone

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