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PurposeAutosomal Dominant Hypocalcemia type 1 (ADH1), caused by gain-of-function variants in the calcium-sensing receptor (CASR), is characterized by a variable degree of hypocalcemia and hypercalciuria with inappropriately low PTH. The clinical spectrum is broad, ranging from being asymptomatic to presenting with severe clinical features of hypocalcemia and end-organ damage such as nephrolithiasis and intracerebral calcifications. Although the underlying pathophysiology is different, ADH1 patients are often managed as patients with 'classical' primary hypoparathyroidism, possibly leading to (exacerbation of) hypercalciuria. New treatments such as PTH analogues and calcilytics directly targeting the CASR are in the pipeline. Specific clinical guidance for treatment and monitoring of ADH1 patients is lacking. The purpose of this study is to provide a literature review on management of ADH1, including new therapies, and to formulate practice recommendations.MethodsWe searched for articles and ongoing clinical trials regarding management of ADH1.ResultsForty articles were included. First we review the conventional treatment of ADH1, focusing on active vitamin D, calcium supplements, thiazide diuretics, phosphorus binders and dietary recommendations. In a second part we give an overview of studies with emerging treatments in ADH1: PTH analogues (PTH1-34, rhPTH1-84, TransCon PTH and others) and calcilytics (preclinical studies and clinical trials). In a third part we discuss literature findings regarding monitoring of ADH1 patients. Finally, we formulate clinical practice recommendations.ConclusionWe provide an overview of conventional and new treatments for ADH1 patients. Based on these data, we propose practical recommendations to assist clinicians in the management of ADH1 patients.

Abstract licence: CC BY

BackgroundHypoparathyroidism (HypoPT) is a rare endocrine disorder characterized by insufficient or absent secretion of parathyroid hormone (PTH), which results in hypocalcemia, hyperphosphatemia, and disruption of calcium phosphate homeostasis. Despite advances in understanding its pathophysiology and management, HypoPT remains a complex and impactful condition associated with significant morbidity, impaired quality of life, and long-term complications affecting the skeletal, renal, and neurological systems.MethodsA literature search was performed on PubMed. Articles were selected based on their relevance to the main topic of the review, with particular attention to recent studies.ResultsThis review provides a comprehensive synthesis of the current knowledge on HypoPT, addressing its epidemiology, underlying pathophysiological mechanisms, genetic and acquired etiologies, clinical manifestations, diagnostic strategies, and chronic disease-related complications. Emphasis is placed on the genetic spectrum of the disease, challenges of postsurgical management, and burden of conventional therapy, which often fails to fully restore mineral homeostasis and patient well-being. The evolving therapeutic landscape is detailed, highlighting advances from traditional calcium and active vitamin D supplementation to innovative PTH replacement strategies. Among these, palopegteriparatide and eneboparatide (phase 3 clinical trial ongoing) are reshaping treatment paradigms by enabling more physiological restoration of calcium-phosphate balance, reducing complications, and improving patient-centered outcomes, including renal function and quality of life.ConclusionsBy integrating clinical expertise with the latest research developments, this review offers an updated and holistic perspective on HypoPT management, aiming to support clinicians in delivering effective and individualized care to patients across the spectrum of disease severity.

Abstract licence: CC BY-NC-ND