Persistent hypercalcemia with similar familial Hypocalciuric hypercalcemia features: a case report and literature review

Abstract Background Primary hyperparathyroidism (PHPT) and familial hypocalciuric hypercalcemia (FHH) are the most important differential diagnosis of parathyroid hormone (PTH)-dependent hypercalcemia. The clinical features of FHH and PHPT can overlap in some cases. Therefore, these two diseases mus...

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Autores principales:	Maryam Zahedi, Reyhane Hizomi Arani, Maryam Rafati, Atieh Amouzegar, Farzad Hadaegh
Formato:	article
Lenguaje:	EN
Publicado:	BMC 2021
Materias:	Familial Hypocalciuric hypercalcemia Primary hyperparathyroidism Case report Endocrinology and metabolism Persistent hypercalcemia Diseases of the endocrine glands. Clinical endocrinology RC648-665
Acceso en línea:	https://doaj.org/article/6e762321191947e28b9c2ea2b9f33288
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spelling	oai:doaj.org-article:6e762321191947e28b9c2ea2b9f332882021-11-07T12:02:13ZPersistent hypercalcemia with similar familial Hypocalciuric hypercalcemia features: a case report and literature review10.1186/s12902-021-00881-91472-6823https://doaj.org/article/6e762321191947e28b9c2ea2b9f332882021-11-01T00:00:00Zhttps://doi.org/10.1186/s12902-021-00881-9https://doaj.org/toc/1472-6823Abstract Background Primary hyperparathyroidism (PHPT) and familial hypocalciuric hypercalcemia (FHH) are the most important differential diagnosis of parathyroid hormone (PTH)-dependent hypercalcemia. The clinical features of FHH and PHPT can overlap in some cases. Therefore, these two diseases must be differentiated to prevent unnecessary parathyroidectomy. Here, we present a case that was not entirely matched with any of the known differential diagnoses of hypercalcemia. Case presentation A 19-year-old girl with no history of any disease presented with persistent hypercalcemia without any specific musculoskeletal complaint. We found persistent hypercalcemia in her routine laboratory data from 3 years ago; while no data was available during the childhood period. Her dietary calcium intake was normal. She did not mention any history of renal stone, bone fracture as well as family history of hypercalcemia. Biochemical features showed normal values of serum creatinine, high normal serum calcium (range, 10.3–11.3 mg/dL; (normal range: 8.8–10.4)), and non-suppressed PTH levels (range, 37.2–58.1 pg/mL; (normal range: 10–65)). Serum 25 OH vitamin D level at the first visit was 16.1 ng/mL that treated by vitamin D supplementation. Since then, all 25 OH vitamin D levels were in the acceptable range. After correction of vitamin D deficiency during the follow-up period the calcium creatinine clearance ratio(s) (CCCR) were calculated in the range of 0.009 to 0.014 (means below 1%). The clinical and laboratory data indicate more FHH rather than PHPT. Genetic studies were negative for the common genes associated with FHH (CASR, GNA11, and AP2S1 genes) and multiple endocrine neoplasia type1 (MEN1). On the other hand, no evidence of autoimmunity was found in her to support an autoimmune FHH-like syndrome. Hence, the case did not match completely to any diagnosis of FHH and PHPT, so we decided to follow her. Conclusion We presented a patient with FHH phenotype whose common genetic tests were negative. Further research is needed to ascertain other causes leading to similar manifestations.Maryam ZahediReyhane Hizomi AraniMaryam RafatiAtieh AmouzegarFarzad HadaeghBMCarticleFamilial Hypocalciuric hypercalcemiaPrimary hyperparathyroidismCase reportEndocrinology and metabolismPersistent hypercalcemiaDiseases of the endocrine glands. Clinical endocrinologyRC648-665ENBMC Endocrine Disorders, Vol 21, Iss 1, Pp 1-5 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Familial Hypocalciuric hypercalcemia Primary hyperparathyroidism Case report Endocrinology and metabolism Persistent hypercalcemia Diseases of the endocrine glands. Clinical endocrinology RC648-665
spellingShingle	Familial Hypocalciuric hypercalcemia Primary hyperparathyroidism Case report Endocrinology and metabolism Persistent hypercalcemia Diseases of the endocrine glands. Clinical endocrinology RC648-665 Maryam Zahedi Reyhane Hizomi Arani Maryam Rafati Atieh Amouzegar Farzad Hadaegh Persistent hypercalcemia with similar familial Hypocalciuric hypercalcemia features: a case report and literature review
description	Abstract Background Primary hyperparathyroidism (PHPT) and familial hypocalciuric hypercalcemia (FHH) are the most important differential diagnosis of parathyroid hormone (PTH)-dependent hypercalcemia. The clinical features of FHH and PHPT can overlap in some cases. Therefore, these two diseases must be differentiated to prevent unnecessary parathyroidectomy. Here, we present a case that was not entirely matched with any of the known differential diagnoses of hypercalcemia. Case presentation A 19-year-old girl with no history of any disease presented with persistent hypercalcemia without any specific musculoskeletal complaint. We found persistent hypercalcemia in her routine laboratory data from 3 years ago; while no data was available during the childhood period. Her dietary calcium intake was normal. She did not mention any history of renal stone, bone fracture as well as family history of hypercalcemia. Biochemical features showed normal values of serum creatinine, high normal serum calcium (range, 10.3–11.3 mg/dL; (normal range: 8.8–10.4)), and non-suppressed PTH levels (range, 37.2–58.1 pg/mL; (normal range: 10–65)). Serum 25 OH vitamin D level at the first visit was 16.1 ng/mL that treated by vitamin D supplementation. Since then, all 25 OH vitamin D levels were in the acceptable range. After correction of vitamin D deficiency during the follow-up period the calcium creatinine clearance ratio(s) (CCCR) were calculated in the range of 0.009 to 0.014 (means below 1%). The clinical and laboratory data indicate more FHH rather than PHPT. Genetic studies were negative for the common genes associated with FHH (CASR, GNA11, and AP2S1 genes) and multiple endocrine neoplasia type1 (MEN1). On the other hand, no evidence of autoimmunity was found in her to support an autoimmune FHH-like syndrome. Hence, the case did not match completely to any diagnosis of FHH and PHPT, so we decided to follow her. Conclusion We presented a patient with FHH phenotype whose common genetic tests were negative. Further research is needed to ascertain other causes leading to similar manifestations.
format	article
author	Maryam Zahedi Reyhane Hizomi Arani Maryam Rafati Atieh Amouzegar Farzad Hadaegh
author_facet	Maryam Zahedi Reyhane Hizomi Arani Maryam Rafati Atieh Amouzegar Farzad Hadaegh
author_sort	Maryam Zahedi
title	Persistent hypercalcemia with similar familial Hypocalciuric hypercalcemia features: a case report and literature review
title_short	Persistent hypercalcemia with similar familial Hypocalciuric hypercalcemia features: a case report and literature review
title_full	Persistent hypercalcemia with similar familial Hypocalciuric hypercalcemia features: a case report and literature review
title_fullStr	Persistent hypercalcemia with similar familial Hypocalciuric hypercalcemia features: a case report and literature review
title_full_unstemmed	Persistent hypercalcemia with similar familial Hypocalciuric hypercalcemia features: a case report and literature review
title_sort	persistent hypercalcemia with similar familial hypocalciuric hypercalcemia features: a case report and literature review
publisher	BMC
publishDate	2021
url	https://doaj.org/article/6e762321191947e28b9c2ea2b9f33288
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Persistent hypercalcemia with similar familial Hypocalciuric hypercalcemia features: a case report and literature review

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