Familial Mediterranean fever (FMF) is the most frequent periodic syndrome characterized by
recurrent attacks of polyserositis. Fever, abdominal pain, chest pain, and arthritis/arthralgia …

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

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 …

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

Steroid-resistant nephrotic syndrome (SRNS) is a frequent cause of end-stage renal failure.
Identification of single-gene causes of SRNS has generated some insights into its …

Background: Familial Mediterranean Fever (FMF) is caused by mutations in the gene
encoding pyrin and is characterized by self-limited, recurrent attacks of fever and serositis. …

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

Primary distal renal tubular acidosis (dRTA) is characterized by reduced ability to acidify
urine, variable hyperchloremic hypokalemic metabolic acidosis, nephrocalcinosis, and …