OCRL1 mutation in a boy with Dent disease, mild mental retardation, but without cataracts.

Background: Oculocerebrorenal (Lowe) syndrome is an X-linked multisystem disease characterized by renal proximal tubulopathy, mental retardation, and congenital cataracts. We present a 19-year-old boy who was found to have low molecular weight proteinuria, hypercalciuria, mild generalized hyperaminoaciduria and intermittent microscopic hematuria at the age of 3.

Methods: Standard clinical and biochemical examinations and mutational analysis of the CLNC5 and OCRL1 gene were performed for the patient.

Clinical and laboratory features of Macedonian children with OCRL mutations.

OCRL mutations, which are a hallmark of Lowe syndrome, have recently been found in patients with isolated renal phenotype (Dent-2 disease). In this report, we describe clinical and laboratory features in five Macedonian children with mutations in the OCRL gene. Children with a clinical diagnosis of Lowe syndrome or Dent disease underwent complete neurological and ophthalmological examination, imaging of the kidney and urinary tract, assessment of renal tubular function, and mutation analysis of the OCRL gene.

Atypical presentation of distal renal tubular acidosis in two siblings.

Primary distal renal tubular acidosis (dRTA) is an inherited disease characterized by the inability of the distal tubule to lower urine pH <5.50 during systemic acidosis. We report two male siblings who presented with severe hyperchloremic metabolic acidosis, high urinary pH, nephrocalcinosis, growth retardation, sensorineural hearing loss, and hypokalemic paralysis.

Erythrocyte antioxidant enzymes in patients with alcohol dependence syndrome.

Background: The role of free radicals and hydrogen peroxides in the metabolism and toxicity of alcohol is supported by many studies, therefore, many autors have tried to use the enzymes, metabolizing highly reactive chemical compounds as biological markers of alcoholism.

Methods: Erythrocyte antioxidant enzymes were measured in 37 male patients with alcohol dependence syndrome, without severe liver disease, aged between 18 and 59 years, with different duration (years) of alcohol abuse.

Results: Superoxide dismutase (SOD) activity was statistically significantly increased in alcoholics.