Alport syndrome (ATS) and benign familial hematuria (BFH) are type IV collagen inherited disorders. Mutations in COL4A5 are generally believed to cause X-linked ATS, whereas mutations in COL4A3 and COL4A4 genes can be associated with the autosomal-recessive and -dominant type of ATS or BFH. In view of the wide spectrum of phenotypes, an exact diagnosis is sometimes difficult to achieve. This study involved screening each exon with boundary intronic sequences of COL4A3, COL4A4, and COL4A5 genes by optimized polymerase chain reaction-single-stranded conformational polymorphism analysis in 17 families with ATS and in 40 families diagnosed as having BFH. Twelve different mutations were found in the COL4A5 gene in ATS patients, comprising nine missense mutations, a splice site mutation, a mutation causing frameshift, and a nonsense mutation. One of the missense mutations (p.G624D) was present not only in one family with ATS but also in five families with suspected BFH. Three heterozygous mutations in the COL4A3 gene (two missense and one frameshift) and four heterozygous mutations in COL4A4 (two splice site, one in-frame deletion, and one missense) were identified in patients with BFH. Sixteen mutations are to the best of our knowledge new and private.

Hypertension during childhood is not rare, with an estimated prevalence of between 1% and 2%, although it is often an underrecognized clinical entity. Elevated blood pressure may be a sign of underlying disease or it may represent early onset of essential hypertension. In recent years the measurement of blood pressure has been emphasized as an important component of the routine pediatric physical examination that enables early detection of children with hypertension. In the evaluation of the child with documented blood pressure elevation, confirmation of truly and persistently elevated blood pressure is of the utmost importance. In addition, a thorough history and a full clinical examination are essential. These are followed by appropriate investigations, which are tailored to the age of the child and to the severity of the blood pressure elevation. Investigations should not only focus on a search for the underlying cause, but also on establishing effects on target organs, complications or additional diseases and on assessment of the total cardiovascular risk to the individual patient. An algorithm, which is a valuable diagnostic tool for the diagnosis and management of the child with hypertension, is presented. All children with confirmed hypertension need long-term follow-up, counseling and treatment. In those cases where an underlying cause of the hypertension is detected, the established diagnosis then determines the specific therapy and management.

The personality domains of conscientiousness, extraversion, agreeableness, and illness representation dimensions (treatment control, concern, and emotional burden) were shown to predict adherence behaviors in adolescent hypertensive patients differentially. Study implications and limitations are discussed.

During the past several years, 24-hour (24-h) ambulatory blood pressure monitoring (ABPM) has become a useful tool for the diagnosis and management of children and adolescents with elevated blood pressure (BP). Some reports have also provided blood pressure nomograms for particular devices. However, there are very few reports of the use of this method in very young children. In our study we investigated the applicability of ABPM in 97 healthy infants and toddlers, aged from 2 to 30 months. A satisfactory ABPM profile was obtained in 86.6% of the children, with an average of 75.0% satisfactory BP recordings. The mean +/- SD systolic and diastolic BP of healthy infants and toddlers was 99+/-12/62+/-12 mmHg during the daytime and 95+/-11/57+/-10 mmHg during the night, with no gender difference being observed. The 24-h mean +/- SD systolic and diastolic BP, which may be a more appropriate measure of BP in this particular age group, was found to be 97+/-12/59+/-11 mmHg. We also confirmed the increase in systolic and diastolic BP with increased height (length). There was only a slight nocturnal decrease in BP. We conclude that this method is applicable for the assessment of blood pressure in very young children.