Clinical characteristics of familial hypocalciuric hypercalcaemia type 1: A multicentre study of 77 adult patients

Autor: Jean-Philippe Haymann, Anne Lienhardt, Antoine Tabarin, Agnès Linglart, Philippe Caron, Yves Reznik, Thierry Brue, Dominique Martin-Coignard, Ivan Tack, Alexandre Buffet, Rosa Vargas-Poussou, Delphine Vezzosi, Marguerite Hureaux, Caroline Silve, Corinne Magdelaine, Jean-Marc Kuhn, C. Mouly, Solange Grunenwald, Antoine Bennet
Přispěvatelé: CHU Toulouse [Toulouse], Hôpital Européen Georges Pompidou [APHP] (HEGP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO), CHU Limoges, Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), CHU Rouen, Normandie Université (NU), Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Institut National de la Santé et de la Recherche Médicale (INSERM)-Aix Marseille Université (AMU), Service d'endocrinologie, diabète, maladies métaboliques [Hôpital de la Conception - APHM], Aix Marseille Université (AMU), CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN), CHU Bordeaux [Bordeaux], Centre Hospitalier Le Mans (CH Le Mans), CHU Tenon [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), AP-HP Hôpital Bicêtre (Le Kremlin-Bicêtre), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Gall, Valérie
Rok vydání: 2020
Předmět:
Adult
medicine.medical_specialty
Hypercalcaemia
Endocrinology
Diabetes and Metabolism
Osteoporosis
familial hypocalciuric hypercalcaemia
030209 endocrinology & metabolism
Gastroenterology
Cohort Studies
03 medical and health sciences
0302 clinical medicine
Endocrinology
parathyroid adenoma
Internal medicine
medicine
Humans
Renal colic
primary hyperparathyroidism
calcium‐sensing receptor
Retrospective Studies
Parathyroid adenoma
[SDV.MHEP] Life Sciences [q-bio]/Human health and pathology
business.industry
Middle Aged
Hyperparathyroidism
Primary
medicine.disease
Urinary calcium
3. Good health
030220 oncology & carcinogenesis
Hypercalcemia
Calcium
Kidney stones
medicine.symptom
Differential diagnosis
business
Receptors
Calcium-Sensing
[SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
Primary hyperparathyroidism
Zdroj: Clinical Endocrinology
Clinical Endocrinology, Wiley, 2020, 93 (3), pp.248-260. ⟨10.1111/cen.14211⟩
Clinical Endocrinology, 2020, 93 (3), pp.248-260. ⟨10.1111/cen.14211⟩
ISSN: 1365-2265
0300-0664
DOI: 10.1111/cen.14211
Popis: International audience; ObjectiveFamilial hypocalciuric hypercalcaemia type 1 (FHH1), related to heterozygous loss‐of‐function mutations of the calcium‐sensing receptor gene, is the main differential diagnosis for primary hyperparathyroidism. The aim of our study was to describe clinical characteristics of adult patients living in France with a genetically confirmed FHH1.Design and patientsThis observational, retrospective, multicentre study included 77 adults, followed up in 32 clinical departments in France, with a genetic FHH1 diagnosis between 2001 and 2012.ResultsHypercalcaemia was diagnosed at a median age of 53 years [IQR: 38‐61]. The diagnosis was made after clinical manifestations, routine analysis or familial screening in 56, 34 and 10% of cases, respectively, (n = 58; data not available for 19 patients). Chondrocalcinosis was present in 11/51 patients (22%), bone fractures in 8/56 (14%) and renal colic in 6/55 (11%). The median serum calcium was 2.74 mmol/L [IQR: 2.63‐2.86 mmol/L], the median plasma parathyroid hormone level was 4.9 pmol/L [3.1‐7.1], and the median 24‐hour urinary calcium excretion was 2.8 mmol/24 hours [IQR: 1.9‐4.0]. Osteoporosis (dual X‐ray absorptiometry) or kidney stones (renal ultrasonography) were found in 6/38 patients (16%) and 9/32 patients (28%), respectively. Fourteen patients (18%) underwent parathyroid surgery; parathyroid adenoma was found in three patients (21%) and parathyroid hyperplasia in nine patients (64%). No correlation between genotype and phenotype was established.ConclusionThis large cohort study demonstrates that FHH1 clinical characteristics can be atypical in 33 patients (43%). Clinicians should be aware of this rare differential diagnosis in order to adopt an appropriate treatment strategy.
Databáze: OpenAIRE
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