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Author

Holly R. Mabillard

3 papers indexed here

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Review Open access Sep 2026

Renal and systemic complications in autosomal dominant hypocalcemia type 1: a case series from North East England

Abstract Context Autosomal dominant hypocalcemia type 1 (ADH1) is a rare genetic disorder caused by activating CASR variants, characterized by hypocalcemia, low/normal parathyroid hormone, and hypercalciuria. While managed with conservative calcium targets to prevent renal damage, the long-term systemic burden remains...

Deepika Manoharan, E. Wong, Holly R. Mabillard et al. · 0 citations
Open access Sep 2026

Digenic disease causing variants in a patient with severe nephrocalcinosis

Nephrocalcinosis and cystinuria are two distinct kidney disorders. Nephrocalcinosis is the abnormal, generalised deposition of calcium salts, primarily calcium phosphate or calcium oxalate, within the kidney's parenchyma, and has multiple causes including metabolic disorders, monogenic kidney diseases and medications....

Caitlin Pollock, R. Geraghty, Holly R. Mabillard et al. · 0 citations
Review Open access Oct 2026

GLP-1 receptor agonists—a potential therapy for chronic kidney disease?

Abstract Chronic kidney disease (CKD) represents a significant health burden worldwide, characterized by a gradual decline in kidney function and increased risk of cardiovascular events. Current therapeutic strategies like inhibition of the renin-angiotensin-aldosterone system or sodium-glucose cotransporter 2 inhibito...

Jan Boeckhaus, J. Sayer, Holly R. Mabillard · 0 citations

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