The case is described of a 36 year old man with exercise-induced pain, stiffness, and tubular aggregation in skeletal muscle. Persistent CPK elevation and a normal forearm ischaemic exercise test were demonstrated. Electromyography was normal. Muscle biopsy showed aggregates of tubular structures in most fibres by histochemical and ultrastructural analysis. A relationship of this syndrome to kn...

Mutations in the phosphatidylinositol 4,5-bisphosphate (PtdIns4,5P(2)) 5-phosphatase OCRL cause Lowe syndrome, which is characterised by congenital cataracts, central hypotonia, and renal proximal tubular dysfunction. Previous studies have shown that OCRL interacts with components of the endosomal machinery; however, its role in endocytosis, and thus the pathogenic mechanisms of Lowe syndrome, ...

Arthrogryposis-renal tubular dysfunction-cholestasis syndrome (MIM No. 208085) is a rare multisystem disorder involving the liver, kidney, skin, and central nervous and musculoskeletal systems. The syndrome is an autosomal-recessive trait, associated with germ-line mutations in the VPS33B gene. We report an Iranian boy of consanguineous cousin parents who had congenital deformities of the upper...

We present a patient with Fanconi syndrome who demonstrated poor renal uptake of 99mTc-DMSA and high urinary concentration of the tracer. A 99mTc-DTPA scan was normal and the creatinine clearance only minimally decreased. These findings suggest that 99mTc-DMSA may be accumulated in the kidney by glomerular filtration and subsequent tubular reabsorption, with the nonabsorbed fraction appearing i...

Renal Tubular Acidosis (RTA) is a clinical syndrome characterised by metabolic acidosis secondary to a disorder in renal acidification. The acidification may be manifested by a defect in the renal tubular reabsorption of bicarbonate and/or urinary excretion of hydrogen ion1 -3. In terms of clinical and physiopathological aspects this disease can be classified into three groups: distal RTA or ty...

Distal renal tubular acidosis is a syndrome of abnormal urine acidification and is characterized by hyperchloremic metabolic acidosis, hypokalemia, hypercalciurea, nephrocalcinosis and nephrolithiasis. Despite the presence of persistent hypokalemia, acute muscular paralysis is rarely encountered in males. Here, we will report an eighteen year old male patient who presented with flaccid quadripa...

Oculocerebrorenal syndrome of Lowe (OCRL) is a rare, X-linked disorder characterized by congenital cataracts, neonatal or infantile hypotonia, seizures, cognitive impairment, and renal tubular dysfunction. In this article, we report two maternal cousins with OCRL with a hemizygous p.Ala788Asp mutation in exon 22 of the OCRL gene. They presented with diverse features of selective proximal renal ...

We report a case of distal renal tubular acidosis in a twenty year old female patient of scleroderma and secondary Sjogren's syndrome. This patient presented with two episodes of flaccid quadriparesis which were associated with hypokalaemia and was later found to have an underlying scleroderma with secondary Sjogren's syndrome.