Development of a tool for predicting HNF1B mutations in children and young adults with congenital anomalies of the kidneys and urinary tract.

Background: We aimed to develop a tool for predicting HNF1B mutations in children with congenital abnormalities of the kidneys and urinary tract (CAKUT).

Methods: The clinical and laboratory data from 234 children and young adults with known HNF1B mutation status were collected and analyzed retrospectively. All subjects were randomly divided into a training (70%) and a validation set (30%).

Incidental Detection of Dent-2 Disease in an Infant with Febrile Proteinuria.

Objective: Febrile proteinuria is functional proteinuria and is seen as a transitory phenomenon during acute febrile illness, mainly viral infections. It is a benign phenomenon and clears promptly with resolution of the infection.

Clinical Presentation And Intervention: In this report, we present a patient who was thought to have febrile proteinuria.

Mutations in TBX18 Cause Dominant Urinary Tract Malformations via Transcriptional Dysregulation of Ureter Development.

Congenital anomalies of the kidneys and urinary tract (CAKUT) are the most common cause of chronic kidney disease in the first three decades of life. Identification of single-gene mutations that cause CAKUT permits the first insights into related disease mechanisms. However, for most cases the underlying defect remains elusive.

Renal dysplasia in Bardet-Biedl syndrome.

Background: Bardet-Biedl syndrome (BBS) is a multisystem genetic disorder characterized with central obesity, pigmentary retinopathy, polydactyly, mental retardation, and hypogenitalism. Renal abnormalities have been recognized as a cardinal feature of the disease with serious prognostic implication. The aim of this study was to analyze the renal status in children with BBS and to implement appropriate interventions in those with progressive course Patients and methods: The diagnosis of BBS was established on the basis of criteria proposed by Beales et al.

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.

Nephrotic syndrome occurring during tiopronin treatment for cystinuria.

Cystinuria is an autosomal recessive disorder characterized with abnormal tubular reabsorption of cystine and dibasic amino acids leading to cystine urolithiasis. The classical form is caused by mutations in the SLC3A1 gene (OMIM 220100). The cornerstone of the treatment is high hydration and alkalization of the urine to achieve urine pH between 7.

Influence of metabolic risk factors on the presence of carotid artery disease in patients with type 2 diabetes and coronary artery disease.

The aim of the study was to evaluate the prevalence of carotid artery disease in type 2 diabetes patients with coronary artery disease, and to establish the influence of metabolic factors on its occurrence. In all, 145 patients (aged 59.85+/-8.

Mild rhabdomyolysis in a child with fever and "hematuria".

Rhabdomyolysis represents a life-threatening condition, which results in release of cellular contents (myoglobin, enzymes, and electrolytes) into the plasma. We report a pediatric patient with mild rhabdomyolysis who had a favorable outcome. A 3-year-old girl had been ill for 2 days with high fever, anorexia, pain in both thighs, and passage of dark-red urine.