Protein coding genes constitute only approximately 1% of the human genome but harbor 85%
of the mutations with large effects on disease-related traits. Therefore, efficient strategies …

Objectives. Several sets of criteria mainly for adults have been proposed for the diagnosis of
FMF. The aim of the present study is to validate the most widely used diagnostic ‘Tel …

Objectives To validate the previously proposed classification criteria for Henoch–Schönlein
purpura (HSP), childhood polyarteritis nodosa (c-PAN), c-Wegener granulomatosis (c-WG) …

Adolescent Adult Aged Aged, 80 and over Amyloidosis, Familial-etiology Child Child,
Preschool Colchicine-therapeutic use Epidemiologic Methods Familial Mediterranean Fever-…

Abstract Analysis of patients with inherited hypokalaemic alkalosis resulting from salt–wasting
has proved fertile ground for identification of essential elements of renal salt homeostasis …

H+-ATPases are ubiquitous in nature; V-ATPases pump protons against an electrochemical
gradient, whereas F-ATPases reverse the process, synthesizing ATP. We demonstrate here …

Autosomal recessive distal renal tubular acidosis (rdRTA) is characterised by severe
hyperchloraemic metabolic acidosis in childhood, hypokalaemia, decreased urinary calcium …

Nephrotic syndrome, a malfunction of the kidney glomerular filter, leads to proteinuria, edema
and, in steroid-resistant nephrotic syndrome, end-stage kidney disease. Using positional …

ABSTRACT. Nephrotic syndrome (NS) represents the association of proteinuria,
hypoalbuminemia, edema, and hyperlipidemia. Steroid-resistant NS (SRNS) is defined by primary …

Familial Mediterranean Fever (FMF) is a recessive disorder characterised by episodes of
fever and neutrophil-mediated serozal inflammation. The FMF gene (MEFV) was recently …