Bartter’s and Gitelman’s syndromes are two different genetic renal diseases, but are both characterised by hypokalaemia and metabolic alkalosis. Bartter’s syndrome is characterised by multiple gene mutations (Na–K–2Cl cotransporter; K…
Wilson’s disease (WD) is a rare disease, defined as an autosomal recessive disorder characterised by release of free copper and dramatic accumulation of intracellular hepatic copper with subsequent hepatic and…
In uncommon diseases, or in orphan diseases, musculoskeletal disorders can be the hallmark of the diseases. This can be a difficult diagnostic issue. Clinicians are aware of characteristic clinical phenotypes…
Glucocorticoids remain part of the treatment strategy in many rheumatic diseases, because of their anti-inflammatory and immunosuppressive actions. Unfortunately, their clinically desired effects are linked to adverse effects, especially at…
The approval – several years ago – of the first tumour necrosis factor-α (TNF-α) inhibitor for the management of rheumatoid arthritis launched a new era in the therapeutics of rheumatology….
The need for improved analytical techniques in the study of slow, degenerative diseases such as rheumatoid arthritis and osteoarthritis has driven major efforts aimed at identifying biochemical markers of pathological…
Systemic sclerosis (SSc) is a multisystemic fibrotic disorder that affects the skin and internal organs. Despite an improved outcome probably reflecting a better management of disease complications, morbidity and mortality…
The most important clinical features of the spondyloarthritides (SpA) are not only inflammatory back pain (IBP) but also peripheral (enthesitis) and extra-articular symptoms. For clinical purposes, two forms related to…
Biomechanical factors play an important role in the health of diarthrodial joints. Altered joint loading – associated to obesity, malalignment, trauma or joint instability – is a critical risk factor…
The pathogenesis of osteoarthritis (OA) appears to be the result of a complex interplay between mechanical, cellular and biochemical forces. Obesity is the strongest risk factor for disease onset in…
