Endocrine Abstracts

Transient receptor potential cation channel, subfamily Vanilloid, member 5 (TRPV5) is a member of the TRP superfamily. TRPV5, which functions as a tetramer, is localized to apical membranes of distal convoluted tubules (DCT) and connecting tubules (CNT) of the kidney, and is involved in vitamin D-regulated calcium reabsorption. Mice with a targeted deletion of Trpv5 (Trpv5−/−) develop severe hypercalciuria, compensatory hyperabsorption of dietary ...

To identify genes causing hypercalciuria, we screened male offspring of C57BL/6J male mice mutagenised by N-ethyl-N-nitrosourea (ENU) for this abnormality. Mice were kept in accordance with UK Home Office welfare guidelines and project licence restrictions. Metabolic cage studies were performed to collect 24-hour urine samples, and this revealed one mouse with hypercalciuria (Hcalc1). Inheritance testing demonstrated that Hcalc1 was inherited as an autosomal domi...

Vascular calcification, occurring in organs such as heart and kidneys, is associated with increased risk of cardiovascular mortality. The underlying molecular mechanisms remain unknown. To elucidate these, we investigated C3H mice, an inbred strain susceptible to vascular, myocardial and renal calcification. Myocardial calcification in C3H mice involves 4 genetic loci, Dyscalc1-4, that map to chromosomes 7, 4, 12 and 14, respectively. Dyscalc1 contributes to myoc...

Background and aims: Wolfram syndrome is a rare autosomal recessive orphan disease. The clinical manifestations are young onset diabetes, optic nerve atrophy and deafness. Most Wolfram patients carry mutations in WFS1. WFS1 deficiency results in endoplasmic reticulum (ER) stress, leading to neurodegeneration and pancreatic β-cell dysfunction and death. Glucagon-like peptide-1 (GLP-1) analogs and the cAMP inducer forskolin have been shown to protect β-cells f...

Introduction: Since 2019 the Global Leadership Into Malnutrition (GLIM) criteria exist for diagnosing malnutrition. Patients with gastoenteropancreatic (GEP) neuroendocrine tumours (NETs) using somatostatin analogue’s (SSA’s) are at risk of malnutrition. Deficiencies in fat-soluble vitamins, minerals and trace elements are not part of the GLIM criteria but frequently reported in patients with GEP-NETs using SSA’s. The relationship between malnut...

Introduction: Maintaining adequate nutritional status can be a challenge for patients with small intestinal neuroendocrine tumours (NETs) and mesenteric lymph node metastasis which can form a mesenteric mass. The preferred treatment option would be resection of this mesenteric mass, however, due to adjacent small bowel loops there is a risk of developing short bowel syndrome (SBS). If the mesenteric mass is not resected there is a risk of developing inoperable...

Introduction: Adrenal venous sampling (AVS) is the criterion standard method of lateralisation in primary aldosteronism (PA). Despite this pivotal role, there is limited consensus and significant variability between centres related to many of the technical aspects of AVS. In this study, we sought to address whether variations in two different technical aspects of AVS altered parameters and interpretation, namely: 1. Peripheral sample site 2. Method of adrenal vein (AV) venesec...

Background: After adrenalectomy (ADX) for primary aldosteronism (PA), approximately 30% of patients achieve clinical success (normalisation of home BP); many additional patients report feeling subjectively better. We used the non-randomised MATCH study1 to further assess quality of life (QoL) changes in participants.Objective: Assess QoL using the 36-item Short Form Health Survey (SF-36) after surgical treatment of unilateral PA and medical treatment of ...

Primary aldosteronism (PA) is the potentially curable cause of high-risk hypertension in 5-10% of unselected patients. Diagnosis and lateralisation of PA is challenging and complex. Outcomes post total adrenalectomy, the standard treatment for unilateral aldosterone producing adenomas (APAs), are variable. Between 30-60% are cured (1), but prediction of outcome is unreliable, and some patients are reluctant to have abdominal surgery to remove a whole adrenal gland. Endoscopic ...

Marshall-Smith syndrome (MSS) is a congenital disorder characterised by developmental delay, short stature, respiratory difficulties, distinctive facial features, skeletal abnormalities (such as kyphoscoliosis, dysostosis and osteopenia) and delayed neural development, and is due to heterozygous mutations that are clustered in exons 6–10 of the transcription factor nuclear factor I/X (NFIX) gene. These frameshift and splice-site NFIX variants result in t...