Bartter and Gitelman syndromes.

Bartter and Gitelman syndromes belong to salt-losing tubulopathies. These rare diseases may be associated with severe electrolyte disorders. Early identification of tubulopathies is essential for appropriate management.

Complement activation is associated with more severe course of diarrhea-associated hemolytic uremic syndrome, a preliminary study.

Diarrhea-associated hemolytic uremic syndrome is characterized by hemolytic anemia, thrombocytopenia, and acute kidney injury secondary to enteric infection, typically Shiga toxin-producing Escherichia coli. Shiga toxin 2 is able to activate alternative complement pathways; therefore, the aim of the study was to analyze C3 as a predictor of clinical courses in patients with diarrhea-associated hemolytic uremic syndrome. We hypothesized that the patients with increased complement activation at admission suffered from a more severe course.

Is Central Europe Safe from Environmental Lead Intoxications? A Case Series.

Preventive measures in Central Europe were successful in suppressing both occupational and environmental lead exposure so that they did not constitute a severe public health problem. However, rare lead intoxications still appear. We report on lead intoxication in four family members where the source was removed lead ceiling paint.

Modern diagnostic approach to hereditary xanthinuria.

Hereditary xanthinuria (HX) is a rare inherited disorder caused by a deficiency of xanthine dehydrogenase/oxidase (XDH/XO). Missing XDH/XO activity leads to undetectable levels of uric acid excessively replaced by xanthine in serum/urine. The allopurinol loading test has been traditionally used to differentiate between HX types I and II.

Controlled diet in phenylketonuria and hyperphenylalaninemia may cause serum selenium deficiency in adult patients: the Czech experience.

Phenylketonuria is an inherited disorder of metabolism of the amino acid phenylalanine caused by a deficit of the enzyme phenylalanine hydroxylase. It is treated with a low-protein diet containing a low content of phenylalanine to prevent mental affection of the patient. Because of the restricted intake of high-biologic-value protein, patients with phenylketonuria may have lower than normal serum concentrations of pre-albumin, selenium, zinc and iron.

Intravitreal pegaptanib combined with diode laser therapy for stage 3+ retinopathy of prematurity in zone I and posterior zone II.

Purpose: To investigate efficacy of intravitreal injection of pegaptanib and laser photocoagulation for treatment of stage 3+ retinopathy of prematurity (ROP) affecting zone I and posterior zone II, and to compare the results in terms of regression, development of peripheral retinal vessels, and final structural outcome with conventional laser photocoagulation or combined with cryotherapy.

Methods: In a prospective comparative study, 152 eyes with zone I, II posterior ROP 3+ (76 premature rabies), from 2009 to 2011, were included. Patients were randomly assigned to receive intravitreal pegaptanib (Macugen® 0.

Caudal regression syndrome in one of dizygotic twins.

Caudal regression syndrome is a rare congenital condition characterized by varying degrees of developmental failure ranging from a partial sacral agenesis to the absence of lumbosarcal spine, hypoplasia, or fusion of the lower extremities and visceral anomalies. This is the third case of only one of the twins involved by this syndrome described in the literature and the second case of the selective involvement in dizygotic twins. Selective involvement of only one twin suggests that factors other than hyperglycemia and 7q deletions may be involved in the pathogenesis.

Compound heterozygous mutations in the vitamin D receptor in a patient with hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia.

Hereditary vitamin D-resistant rickets (HVDRR) is a rare recessive genetic disorder caused by mutations in the vitamin D receptor (VDR). In this study, we examined the VDR in a young girl with clinical features of HVDRR including rickets, hypophosphatemia, and elevated serum 1,25(OH)(2)D. The girl also had total alopecia.

Paroxysmal nocturnal hemoglobinuria in a girl with hemolysis and "hematuria".

Paroxysmal nocturnal hemoglobinuria (PNH) is a rare disorder of unknown frequency. In its classic form, PNH is characterized by hemolysis accompanied by nocturnal hemoglobinuria. The clinical course is unpredictable and may vary from severe hemolysis and recurrent venous thrombosis to latent periods with milder symptoms.