A founder pathogenic variant resulting in Alport syndrome and thin basement membrane disease: a case report series.

Alport syndrome is a rare genetic condition characterized by kidney disease, hearing impairment, and ocular abnormalities. It exhibits various inheritance patterns involving pathogenic variants in , , and genes. The phenotypes can range from isolated hematuria with a non-progressive or very slowly progressive course to progressive kidney disease with extrarenal abnormalities.

Characterization of two novel mutations in the claudin-16 and claudin-19 genes that cause familial hypomagnesemia with hypercalciuria and nephrocalcinosis.

Familial hypomagnesemia with hypercalciuria and nephrocalcinosis is an autosomal-recessive renal tubular disorder characterized by excessive urinary losses of magnesium and calcium, bilateral nephrocalcinosis and progressive chronic renal failure in childhood or adolescence. The disease is caused by mutations in the tight-junction proteins claudin-16 and claudin-19 that are encoded by the CLDN16 and CLDN19 genes, respectively. Patients with CLDN19 mutations also are affected with severe ocular abnormalities.

CHARACTERISTICS OF DIARRHEAL DISEASE COMPLICATED WITH HEMOLYTIC UREMIC SYNDROME AMONG CHILDREN IN GEORGIA, 2009-2016.

Shiga toxin-producing Escherichia coli (STEC) causes illness ranging from mild diarrhea to bloody diarrhea, to the hemolytic uremic syndrome (HUS), which manifests with a triad of microangiopathic hemolytic anemia, thrombocytopenia and acute renal failure. Surveillance of HUS and bloody diarrhea is not performed in Georgia. The primary objective of our study was to determine the annual incidence of diarrheal diseases.

EXPANDED PHENOTYPE OF TMEM67 GENE MUTATION (CASE REPORT).

Human ciliopathies are a class of multi-organ genetic disorders caused by defects of proteins expressed at the primary cilium, an organelle present on the cell surface of almost all cell types. Thus far, dozens of causative genes for ciliopathies have been identified and many of them are known to cause allelic disease. Of particular interest is the TMEM67 gene, encoding the transmembrane protein meckelin.

Spectrum of steroid-resistant and congenital nephrotic syndrome in children: the PodoNet registry cohort.

Background And Objectives: Steroid-resistant nephrotic syndrome is a rare kidney disease involving either immune-mediated or genetic alterations of podocyte structure and function. The rare nature, heterogeneity, and slow evolution of the disorder are major obstacles to systematic genotype-phenotype, intervention, and outcome studies, hampering the development of evidence-based diagnostic and therapeutic concepts. To overcome these limitations, the PodoNet Consortium has created an international registry for congenital nephrotic syndrome and childhood-onset steroid-resistant nephrotic syndrome.