A hipocalcemia autossômica dominante (AD hipocalcemia) é um distúrbio que afeta a forma como o cálcio é regulado no corpo. Ela se manifesta por diferentes níveis de cálcio baixo no sangue (hipocalcemia), junto com taxas anormalmente baixas do hormônio da paratireoide (PTH). Apesar disso, o nível de cálcio na urina (calciúria) permanece normal ou elevado.
Introdução
O que você precisa saber de cara
A hipocalcemia autossômica dominante (AD hipocalcemia) é um distúrbio que afeta a forma como o cálcio é regulado no corpo. Ela se manifesta por diferentes níveis de cálcio baixo no sangue (hipocalcemia), junto com taxas anormalmente baixas do hormônio da paratireoide (PTH). Apesar disso, o nível de cálcio na urina (calciúria) permanece normal ou elevado.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 16 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 44 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
2 genes identificados com associação a esta condição. Padrão de herança: Autosomal dominant.
G-protein-coupled receptor that senses changes in the extracellular concentration of calcium ions and plays a key role in maintaining calcium homeostasis (PubMed:17555508, PubMed:19789209, PubMed:21566075, PubMed:22114145, PubMed:22789683, PubMed:23966241, PubMed:25104082, PubMed:25292184, PubMed:25766501, PubMed:26386835, PubMed:32817431, PubMed:33603117, PubMed:34194040, PubMed:34467854, PubMed:7759551, PubMed:8636323, PubMed:8702647, PubMed:8878438). Senses fluctuations in the circulating cal
Cell membrane
Hypocalciuric hypercalcemia, familial 1
A form of hypocalciuric hypercalcemia, a disorder of mineral homeostasis that is transmitted as an autosomal dominant trait with a high degree of penetrance. It is characterized biochemically by lifelong elevation of serum calcium concentrations and is associated with inappropriately low urinary calcium excretion and a normal or mildly elevated circulating parathyroid hormone level. Hypermagnesemia is typically present. Affected individuals are usually asymptomatic and the disorder is considered benign. However, chondrocalcinosis and pancreatitis occur in some adults.
Guanine nucleotide-binding proteins (G proteins) function as transducers downstream of G protein-coupled receptors (GPCRs) in numerous signaling cascades (PubMed:31073061). The alpha chain contains the guanine nucleotide binding site and alternates between an active, GTP-bound state and an inactive, GDP-bound state (PubMed:31073061). Signaling by an activated GPCR promotes GDP release and GTP binding (PubMed:31073061). The alpha subunit has a low GTPase activity that converts bound GTP to GDP, t
Cell membraneCytoplasm
Hypocalciuric hypercalcemia, familial 2
A form of hypocalciuric hypercalcemia, a disorder of mineral homeostasis that is transmitted as an autosomal dominant trait with a high degree of penetrance. It is characterized biochemically by lifelong elevation of serum calcium concentrations and is associated with inappropriately low urinary calcium excretion and a normal or mildly elevated circulating parathyroid hormone level. Hypermagnesemia is typically present. Affected individuals are usually asymptomatic and the disorder is considered benign. However, chondrocalcinosis and pancreatitis occur in some adults.
Variantes genéticas (ClinVar)
584 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 2,413 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
13 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Hipocalcemia autossômica dominante
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Pesquisa ativa
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Ensaios em destaque
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1 pesquisa recrutando participantes. Converse com seu médico sobre a possibilidade de participar.
Outros ensaios clínicos
9 ensaios clínicos encontrados, 3 ativos.
Publicações mais relevantes
Refractory Hypocalcemia from Combined Autosomal Dominant Hypocalcemia Type 2 and Postsurgical Hypoparathyroidism.
A 49-yr-old female with a history of chronic hypocalcemia, diagnosed twenty years earlier, had serum calcium concentrations that ranged between 6.4 and 8.5 mg/dL (nl, 8.6-10.3 mg/dL) with inappropriately low to low-normal parathyroid hormone (PTH) concentrations. She did not report symptoms of hypocalcemia such as paresthesias, muscle cramping, or tetany. More recently, a thyroid nodule was discovered, and the patient subsequently underwent total thyroidectomy for papillary thyroid cancer. Parathyroid autotransplantation was not performed since parathyroid glands were not identified during the surgery. After total thyroidectomy, the patient developed a more severe symptomatic, refractory hypocalcemia with undetectable PTH concentrations. Postoperative pathologic examination identified a single hypercellular parathyroid gland. Despite medical treatment, including frequent and regular calcium gluconate infusions, serum calcium concentrations remained persistently low. A genetic evaluation identified a pathogenic GNA11 variant (c.178C > T, p.Arg60Cys), consistent with autosomal dominant hypocalcemia type 2 (ADH2). This case expands the understanding of ADH2 and raises important questions about optimal treatment strategies in patients with coexisting genetic and postsurgical hypoparathyroidism.
Autosomal dominant hypocalcemia type 1: Status quo of tailored management and future perspectives.
A 28-d-old female infant presented with clonic seizures secondary to hypocalcemia (calcium [Ca], 5.7 mg/dL) and hypoparathyroidism (intact parathyroid hormone [PTH], 7 pg/mL). Despite the initiation of oral alfacalcidol therapy, she experienced recurrent episodes of generalized convulsions or focal tetany, despite calcium lactate administration during febrile episodes. Her younger sister exhibited frequent irritability until day 38 of life due to hypocalcemia (Ca, 7.7 mg/dL) and hypoparathyroidism (intact PTH, 5 pg/mL). She experienced three febrile generalized seizures during infancy despite oral alfacalcidol treatment. Both sisters developed nephrocalcinosis despite oral hydrochlorothiazide treatment to reduce hypercalciuria. Genetic testing identified a pathogenic variant, c.2504C > A (p.Ala835Asp), in the calcium-sensing receptor (CASR) gene in both sisters. Their father carried the same variant but remained asymptomatic. This finding led to a diagnosis of autosomal dominant hypocalcemia type 1 (ADH1). Optimal active vitamin D treatment in ADH1 remains challenging because of difficulty maintaining stable serum Ca levels amid fluctuating physiological demands, as well as persistent hypercalciuria resulting from combined PTH deficiency and CaSR activation. Emerging therapies, including calcilytics, may help address these limitations.
An interesting case of coexistence of autosomal dominant hypocalcemia 1 with Bartter syndrome and chronic myelogenous leukemia.
Autosomal dominant hypocalcemia type 1 (ADH1) is a rare form of hypoparathyroidism caused by heterozygous, inherited, or de novo activating mutations in the calcium-sensing receptor gene (CASR). A 29-year-old man was referred to the outpatient department for poorly controlled hypoparathyroidism with hypocalcemia, hypomagnesemia, mild hypokalemia, excessive hypercalciuria, and a worsening eGFR under conventional therapy. He was diagnosed with hypoparathyroidism on the second day of birth. He remained inadequately controlled even after the initiation of replacement therapy with rhPTH (1-84). He was also diagnosed with chronic myelogenous leukemia (CML) at the age of 28 years and was treated with tyrosine kinase inhibitor (TKI), which further worsened the control of hypoparathyroidism. Genetic analysis was performed at the age of 31 years and revealed a change c.2486 A > G in exon 7 of the CaSR gene. This case highlights the importance of characterizing the cause of non-surgical hypoparathyroidism, including ADH1, in the differential diagnosis. ADH1 may coexist with Bartter syndrome type V, making the patient's management more challenging. To our knowledge, this is the second case in the literature with the coexistence of two rare diseases, ADH1 and CML.In CML patients treated with TKIs, serum calcium levels should be monitored and, in the case of severe hypocalcemia accompanied by low or inappropriately normal PTH, the possible existence of ADH1 may need to be investigated.
Clinical characteristics of chinese patients with autosomal dominant hypocalcemia type 1: a single-center study.
Long-acting parathyroid hormone receptor agonist rectifies hypocalcemia in autosomal dominant hypocalcemia type 1 mice.
Publicações recentes
Non-Classical Presentations of Rare Hereditary Hypoparathyroidism: A Case Series of CASR, GNA11 and GATA3 Mutations.
Clinical characteristics of chinese patients with autosomal dominant hypocalcemia type 1: a single-center study.
Refractory Hypocalcemia from Combined Autosomal Dominant Hypocalcemia Type 2 and Postsurgical Hypoparathyroidism.
Autosomal dominant hypocalcemia type 1: Status quo of tailored management and future perspectives.
Long-acting parathyroid hormone receptor agonist rectifies hypocalcemia in autosomal dominant hypocalcemia type 1 mice.
📖 Revisão📚 EuropePMC77 artigos no totalmostrando 88
Clinical characteristics of chinese patients with autosomal dominant hypocalcemia type 1: a single-center study.
Journal of endocrinological investigationRefractory Hypocalcemia from Combined Autosomal Dominant Hypocalcemia Type 2 and Postsurgical Hypoparathyroidism.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral ResearchAutosomal dominant hypocalcemia type 1: Status quo of tailored management and future perspectives.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral ResearchLong-acting parathyroid hormone receptor agonist rectifies hypocalcemia in autosomal dominant hypocalcemia type 1 mice.
The Journal of clinical investigationNovel Variants and Clinical Heterogeneity in Pediatric Calcium Metabolism Disorders Identified Through High-Yield Tiered Genetic Testing in a Taiwanese Cohort.
Medicina (Kaunas, Lithuania)A novel chemoreactive calcilytic for the potential treatment of autosomal dominant hypocalcemia.
Acta pharmaceutica Sinica. BAn interesting case of coexistence of autosomal dominant hypocalcemia 1 with Bartter syndrome and chronic myelogenous leukemia.
Hormones (Athens, Greece)Chronic Hypoparathyroidism-Current and Emerging Therapies.
Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical EndocrinologistsA calcium-sensing receptor allelic series and underdiagnosis of genetically driven hypocalcemia.
American journal of human geneticsSeizures due to Autosomal Dominant Hypocalcemia-Type 1.
Indian journal of pediatricsCharacterization of quinazolinone calcilytic therapy for autosomal dominant hypocalcemia type 1 (ADH1).
The Journal of biological chemistryAn activating calcium-sensing receptor variant with biased signaling reveals a critical residue for Gα11 coupling.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral ResearchManagement of autosomal dominant hypocalcemia type 1: Literature review and clinical practice recommendations.
Journal of endocrinological investigationA narrative review of monogenic disorders causing nephrolithiasis and chronic kidney disease.
Nephrology (Carlton, Vic.)CASRdb: A Publicly Accessible Comprehensive Database for Disease-Associated Calcium-Sensing Receptor Variants.
The Journal of clinical endocrinology and metabolismHeterogeneous Origins of Calcium Homeostasis Disorders Arising From 5 Heterozygous Calcium-Sensing Receptor Variants.
The Journal of clinical endocrinology and metabolismHypoparathyroidism: an update on new therapeutic approaches.
EndocrineMonitoring Calcium-Sensing Receptor (CaSR)-Induced Intracellular Calcium Flux Using an Indo-1 Flow Cytometry Assay.
Methods in molecular biology (Clifton, N.J.)Molecular regulation of calcium-sensing receptor (CaSR)-mediated signaling.
Chronic diseases and translational medicineNew insights into renal calcium-sensing receptor activation.
Current opinion in nephrology and hypertensionTreatment of Hypoparathyroidism by Re-Establishing the Effects of Parathyroid Hormone.
Endocrinology and metabolism (Seoul, Korea)G protein-coupled receptor (GPCR) gene variants and human genetic disease.
Critical reviews in clinical laboratory sciencesA hypercalcemic episode in an adolescent with autosomal dominant hypocalcemia.
Pediatrics international : official journal of the Japan Pediatric SocietyEfficacy and Safety of Encaleret in Autosomal Dominant Hypocalcemia Type 1.
The New England journal of medicineCase Report: Calcium sensing receptor gene gain of function mutations: a case series and report of 2 novel mutations.
Frontiers in endocrinologyA pediatric case of autosomal dominant hypocalcemia type 2.
Journal of pediatric endocrinology & metabolism : JPEMAutosomal Dominant Hypocalcemia Type 1 and Neonatal Focal Seizures.
Children (Basel, Switzerland)GNA11 Variants Identified in Patients with Hypercalcemia or Hypocalcemia.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral ResearchTemperature sensing by the calcium-sensing receptor.
Frontiers in physiologyNovel Calcium-Sensing Receptor (CASR) Mutation in a Family with Autosomal Dominant Hypocalcemia Type 1 (ADH1): Genetic Study over Three Generations and Clinical Characteristics.
Hormone research in paediatricsThe importance of molecular diagnosis in the management of autosomal dominant hypocalcemia type 1 (ADH1): Case report.
Annales d'endocrinologieAutosomal Dominant Hypocalcemia Type 1: A Systematic Review.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral ResearchAutosomal dominant hypocalcemia with a novel CASR mutation: a case study and literature review.
The Journal of international medical researchThe Youngest Infant to Be Diagnosed with Autosomal Dominant Hypocalcemia Type 2 Harboring a Novel Variant of GNA11: A Case Study and Literature Review.
Annals of clinical and laboratory scienceAutosomal Dominant Hypocalcemia Type 1 (ADH1) Associated With Myoclonus and Intracerebral Calcifications.
Journal of the Endocrine SocietyDifferential parathyroid and kidney Ca2+-sensing receptor activation in autosomal dominant hypocalcemia 1.
EBioMedicineA variant in the CASR gene (c.368T>C) causing hypocalcemia refractory to standard medical therapy.
Endocrinology, diabetes & metabolism case reportsRecurrent hypocalcemic tetany presenting to the emergency room: Answers.
Pediatric nephrology (Berlin, Germany)PTH Infusion for Seizures in Autosomal Dominant Hypocalcemia Type 1.
The New England journal of medicineThe role of calcium-sensing receptor signaling in regulating transepithelial calcium transport.
Experimental biology and medicine (Maywood, N.J.)Rare diseases caused by abnormal calcium sensing and signalling.
EndocrineAutosomal Dominant Hypocalcemia With Atypical Urine Findings Accompanied by Novel CaSR Gene Mutation and VitD Deficiency.
Journal of the Endocrine Society[Clinical and genetic characteristics of primary hypoparathyroidism in children].
Zhonghua er ke za zhi = Chinese journal of pediatricsRecombinant human parathyroid hormone (1-84) is effective in CASR-associated hypoparathyroidism.
European journal of endocrinologyCalcilytic NPSP795 Increases Plasma Calcium and PTH in an Autosomal Dominant Hypocalcemia Type 1 Mouse Model.
JBMR plusA cell function study on calcium regulation of a novel calcium-sensing receptor mutation (p.Tyr825Phe).
Annals of pediatric endocrinology & metabolismA Novel Phenotype Associated with CaSR-Related Familial Brain Calcifications.
Movement disorders clinical practiceFamilial Hypocalciuric Hypercalcemia Type 1 and Autosomal-Dominant Hypocalcemia Type 1: Prevalence in a Large Healthcare Population.
American journal of human geneticsActivating Mutations of the G-protein Subunit α 11 Interdomain Interface Cause Autosomal Dominant Hypocalcemia Type 2.
The Journal of clinical endocrinology and metabolismIntractable Generalized Epilepsy and Autosomal Dominant Hypocalcemia: A Case Report.
Child neurology openGenetic Screening in a Large Chinese Cohort of Childhood Onset Hypoparathyroidism by Next-Generation Sequencing Combined with TBX1-MLPA.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral ResearchPersistent Activation of Calcium-Sensing Receptor Suppresses Bone Turnover, Increases Microcracks, and Decreases Bone Strength.
JBMR plusTreatment of Autosomal Dominant Hypocalcemia Type 1 With the Calcilytic NPSP795 (SHP635).
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral ResearchCauses and pathophysiology of hypoparathyroidism.
Best practice & research. Clinical endocrinology & metabolismBone Matrix Mineralization in Patients With Gain-of-Function Calcium-Sensing Receptor Mutations Is Distinctly Different From that in Postsurgical Hypoparathyroidism.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral ResearchLong-Term Parathyroid Hormone 1-34 Replacement Therapy in Children with Hypoparathyroidism.
The Journal of pediatricsNew Directions in Treatment of Hypoparathyroidism.
Endocrinology and metabolism clinics of North AmericaMedical Hypoparathyroidism.
Endocrinology and metabolism clinics of North AmericaAdvances in the treatment of hypoparathyroidism with PTH 1-34.
BoneDe novo a novel variant of CaSR gene in a neonate with congenital hypoparathyroidism.
Annals of pediatric endocrinology & metabolismCongenital chloride diarrhea needs to be distinguished from Bartter and Gitelman syndrome.
Journal of human geneticsHomozygous Calcium-Sensing Receptor Polymorphism R544Q Presents as Hypocalcemic Hypoparathyroidism.
The Journal of clinical endocrinology and metabolismIdentification and Functional Characterization of a Novel Mutation in the Human Calcium-Sensing Receptor That Co-Segregates With Autosomal-Dominant Hypocalcemia.
Frontiers in endocrinologyA calcium-sensing receptor mutation causing hypocalcemia disrupts a transmembrane salt bridge to activate β-arrestin-biased signaling.
Science signalingClinical characterization of a novel calcium sensing receptor genetic alteration in a Greek patient with autosomal dominant hypocalcemia type 1.
Hormones (Athens, Greece)[Calcilytic drugs:Feature and future.].
Clinical calcium[Disorders Caused by Mutations in Calcium-Sensing Receptor and Related Diseases.].
Clinical calciumGα11 mutation in mice causes hypocalcemia rectifiable by calcilytic therapy.
JCI insightKnockin mouse with mutant Gα11 mimics human inherited hypocalcemia and is rescued by pharmacologic inhibitors.
JCI insightDiseases associated with calcium-sensing receptor.
Orphanet journal of rare diseasesAutosomal Dominant Hypocalcemia (Hypoparathyroidism) Types 1 and 2.
Frontiers in physiologyNatpara for the treatment of hypoparathyroidism.
Expert opinion on biological therapyAutosomal dominant hypocalcemia due to a truncation in the C-tail of the calcium-sensing receptor.
Molecular and cellular endocrinologyActivating Calcium-Sensing Receptor Mutations: Prospects for Future Treatment with Calcilytics.
Trends in endocrinology and metabolism: TEMImpaired growth and intracranial calcifications in autosomal dominant hypocalcemia caused by a GNA11 mutation.
European journal of endocrinologyEpidemiology and Health-Related Quality of Life in Hypoparathyroidism in Norway.
The Journal of clinical endocrinology and metabolismAllosteric Modulation of the Calcium-sensing Receptor Rectifies Signaling Abnormalities Associated with G-protein α-11 Mutations Causing Hypercalcemic and Hypocalcemic Disorders.
The Journal of biological chemistryIdentification of a G-Protein Subunit-α11 Gain-of-Function Mutation, Val340Met, in a Family With Autosomal Dominant Hypocalcemia Type 2 (ADH2).
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral ResearchNovel calcium-sensing receptor cytoplasmic tail deletion mutation causing autosomal dominant hypocalcemia: molecular and clinical study.
European journal of endocrinologyGENETICS IN ENDOCRINOLOGY: Gain and loss of function mutations of the calcium-sensing receptor and associated proteins: current treatment concepts.
European journal of endocrinologyPathogenesis of hypokalemia in autosomal dominant hypocalcemia type 1.
Clinical and experimental nephrologyCalcimimetic and Calcilytic Drugs: Feats, Flops, and Futures.
Calcified tissue international14-3-3 Proteins Buffer Intracellular Calcium Sensing Receptors to Constrain Signaling.
PloS one[Bone and Nutrition. A prospect of calcium sensing receptor].
Clinical calciumThe Calcilytic Agent NPS 2143 Rectifies Hypocalcemia in a Mouse Model With an Activating Calcium-Sensing Receptor (CaSR) Mutation: Relevance to Autosomal Dominant Hypocalcemia Type 1 (ADH1).
EndocrinologyCalcilytic Ameliorates Abnormalities of Mutant Calcium-Sensing Receptor (CaSR) Knock-In Mice Mimicking Autosomal Dominant Hypocalcemia (ADH).
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral ResearchAutosomal dominant hypocalcemia with Bartter syndrome due to a novel activating mutation of calcium sensing receptor, Y829C.
Korean journal of pediatricsNovel Mutation in the CASR Gene (p.Leu123Ser) in a Case of Autosomal Dominant Hypocalcemia.
Journal of pediatric geneticsAssociações
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Refractory Hypocalcemia from Combined Autosomal Dominant Hypocalcemia Type 2 and Postsurgical Hypoparathyroidism.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research· 2026· PMID 41757505mais citado
- Autosomal dominant hypocalcemia type 1: Status quo of tailored management and future perspectives.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research· 2026· PMID 41732805mais citado
- An interesting case of coexistence of autosomal dominant hypocalcemia 1 with Bartter syndrome and chronic myelogenous leukemia.
- Clinical characteristics of chinese patients with autosomal dominant hypocalcemia type 1: a single-center study.
- Long-acting parathyroid hormone receptor agonist rectifies hypocalcemia in autosomal dominant hypocalcemia type 1 mice.
- Non-Classical Presentations of Rare Hereditary Hypoparathyroidism: A Case Series of CASR, GNA11 and GATA3 Mutations.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:428(Orphanet)
- MONDO:0018543(MONDO)
- GARD:2877(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q30989948(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
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