ABSTRACT
Disorders of water balance are a disease commonly encountered in our clinical practice. Analysis of vasopressin receptor type II (V2R) is essential to understand the physiology of water balance and it is used as a biological prototype of G protein-coupled receptors (GPCRs). Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is a syndrome of inappropriate antidiuretic hormone secretion (SIADH) with low plasmatic vasopressin. The evidence on the role of V2 receptor and of aquaporin (AQP) in the mechanism of action for antidiuretic hormone (ADH) was based on the identification of protein gene mutations in patients with nephrogenic diabetes insipidus and NSIAD syndrome. V2R activating mutations were found in patients with NSIAD, contrasting with the numerous V2R inactivating mutations related to X-linked mutations described in patients with nephrogenic diabetes insipidus.
Subject(s)
Diabetes Insipidus, Nephrogenic/physiopathology , Genetic Diseases, X-Linked/physiopathology , Inappropriate ADH Syndrome/physiopathology , Receptors, Vasopressin/genetics , Aquaporins/metabolism , Diabetes Insipidus, Nephrogenic/genetics , Genetic Diseases, X-Linked/genetics , Humans , Inappropriate ADH Syndrome/genetics , Mutation , Neurophysins/metabolism , Protein Precursors/metabolism , Receptors, Vasopressin/metabolism , Vasopressins/blood , Vasopressins/metabolismABSTRACT
Pachyonychia congenita (PC) is a rare hereditary disease, mainly characterized by a painful palmoplantar keratoderma, thickened nails, cysts and white lesions of the oral mucosa. Its clinical manifestations are very variable, it may appear from birth to adulthood. This study report the case of a child with pachyonychia congenita associated with bronchiectasis and renal artery stenosis. The diagnosis of pachyonychia congenita was retained based on clinical and histological data. However the presence of renal artery stenosis and bronchiectasis suggests a possible association as part of a particular syndromic group.