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Gitelman syndrome and primary hyperparathyroidism: a rare association

Gitelman syndrome(GS) is a rare autosomal recessive salt-losing tubulopathy of young adults, characterised by hypokalaemia, hypomagnesaemia, hypocalciuria and secondary hyperaldosteronism. Hypercalcaemia due to hypocalciuria in these patients is extremely rare. A 25-year-old healthy woman was referr...

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Autores principales: Rego, Teresa, Fonseca, Fernando, Cerqueira, Rita, Agapito, Ana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5990061/
https://www.ncbi.nlm.nih.gov/pubmed/29871958
http://dx.doi.org/10.1136/bcr-2017-223663
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author Rego, Teresa
Fonseca, Fernando
Cerqueira, Rita
Agapito, Ana
author_facet Rego, Teresa
Fonseca, Fernando
Cerqueira, Rita
Agapito, Ana
author_sort Rego, Teresa
collection PubMed
description Gitelman syndrome(GS) is a rare autosomal recessive salt-losing tubulopathy of young adults, characterised by hypokalaemia, hypomagnesaemia, hypocalciuria and secondary hyperaldosteronism. Hypercalcaemia due to hypocalciuria in these patients is extremely rare. A 25-year-old healthy woman was referred to the Endocrinology clinic for evaluation of persistent hypokalaemia. She presented with fatigue, myalgias, cramps and paraesthesia. Her physical examination was normal. Laboratory workup revealed: K(+) 2.7 mEq/L (r.v.3.5–5.1), 24 hours urinary K(+) 84.7 mEq/24 hours (r.v.25–125), Mg(2+) 0.71 mg/dL (r.v.1.6–2.6), 24 hours urinary Mg(2+) 143.1 mg/24 hours (r.v.73–122), Ca(2+) 12 mg/dL (r.v.8.4–10.2), aldosterone 47.1 ng/mL (r.v. 4–31) and active renin 374.7 uUI/mL (r.v.4.4–46.1). She was diagnosed with GS and was treated with spironolactone, oral K(+) and Mg(2+) supplementation. Further investigation confirmed hypercalcaemia due to primary hyperparathyroidism owing to a single parathyroid adenoma. Following parathyroidectomy serum calcium normalised. Current knowledge favours that hypomagnesaemia in patients with GS protects them from hypercalcaemia. In this context of multiple electrolyte imbalances, correction of hypomagnesaemia is a challenge and should be done carefully. Like in our patient, aetiology of hypercalcaemia should be promptly diagnosed and reversed.
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spelling pubmed-59900612018-06-08 Gitelman syndrome and primary hyperparathyroidism: a rare association Rego, Teresa Fonseca, Fernando Cerqueira, Rita Agapito, Ana BMJ Case Rep Unusual Association of Diseases/Symptoms Gitelman syndrome(GS) is a rare autosomal recessive salt-losing tubulopathy of young adults, characterised by hypokalaemia, hypomagnesaemia, hypocalciuria and secondary hyperaldosteronism. Hypercalcaemia due to hypocalciuria in these patients is extremely rare. A 25-year-old healthy woman was referred to the Endocrinology clinic for evaluation of persistent hypokalaemia. She presented with fatigue, myalgias, cramps and paraesthesia. Her physical examination was normal. Laboratory workup revealed: K(+) 2.7 mEq/L (r.v.3.5–5.1), 24 hours urinary K(+) 84.7 mEq/24 hours (r.v.25–125), Mg(2+) 0.71 mg/dL (r.v.1.6–2.6), 24 hours urinary Mg(2+) 143.1 mg/24 hours (r.v.73–122), Ca(2+) 12 mg/dL (r.v.8.4–10.2), aldosterone 47.1 ng/mL (r.v. 4–31) and active renin 374.7 uUI/mL (r.v.4.4–46.1). She was diagnosed with GS and was treated with spironolactone, oral K(+) and Mg(2+) supplementation. Further investigation confirmed hypercalcaemia due to primary hyperparathyroidism owing to a single parathyroid adenoma. Following parathyroidectomy serum calcium normalised. Current knowledge favours that hypomagnesaemia in patients with GS protects them from hypercalcaemia. In this context of multiple electrolyte imbalances, correction of hypomagnesaemia is a challenge and should be done carefully. Like in our patient, aetiology of hypercalcaemia should be promptly diagnosed and reversed. BMJ Publishing Group 2018-06-05 /pmc/articles/PMC5990061/ /pubmed/29871958 http://dx.doi.org/10.1136/bcr-2017-223663 Text en © BMJ Publishing Group Ltd (unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted. This is an Open Access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
spellingShingle Unusual Association of Diseases/Symptoms
Rego, Teresa
Fonseca, Fernando
Cerqueira, Rita
Agapito, Ana
Gitelman syndrome and primary hyperparathyroidism: a rare association
title Gitelman syndrome and primary hyperparathyroidism: a rare association
title_full Gitelman syndrome and primary hyperparathyroidism: a rare association
title_fullStr Gitelman syndrome and primary hyperparathyroidism: a rare association
title_full_unstemmed Gitelman syndrome and primary hyperparathyroidism: a rare association
title_short Gitelman syndrome and primary hyperparathyroidism: a rare association
title_sort gitelman syndrome and primary hyperparathyroidism: a rare association
topic Unusual Association of Diseases/Symptoms
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5990061/
https://www.ncbi.nlm.nih.gov/pubmed/29871958
http://dx.doi.org/10.1136/bcr-2017-223663
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