Novel and Founder Pathogenic Variants in X-Linked Alport Syndrome Families in Greece.

Alport syndrome (AS) is the most frequent monogenic inherited glomerulopathy and is also genetically and clinically heterogeneous. It is caused by semi-dominant pathogenic variants in the X-linked (NM_000495.5) gene or recessive variants in the / (NM_000091.

Frequent COL4 mutations in familial microhematuria accompanied by later-onset Alport nephropathy due to focal segmental glomerulosclerosis.

Familial microscopic hematuria (FMH) is associated with a genetically heterogeneous group of conditions including the collagen-IV nephropathies, the heritable C3/CFHR5 nephropathy and the glomerulopathy with fibronectin deposits. The clinical course varies widely, ranging from isolated benign familial hematuria to end-stage renal disease (ESRD) later in life. We investigated 24 families using next generation sequencing (NGS) for 5 genes: COL4A3, COL4A4, COL4A5, CFHR5 and FN1.

Control of proteinuria with increased doses of agalsidase alfa in a patient with Fabry disease with atypical genotype-phenotype expression.

Fabry disease is a rare X-linked lysosomal storage disorder of glycosphingolipids, caused by the partial or complete deficiency of the lysosomal enzyme alpha-galactosidase A (a-Gal A). The missense mutation pN215S usually causes a milder form of the disease with isolated cardiac involvement. We report a case of a male Fabry patient with the pN215S mutation and a generalized disease.

The role of melatonin in patients with chronic kidney disease undergoing haemodialysis.

Patients with chronic kidney disease including those undergoing haemodialysis have deranged sleep-wake pattern. In large part this is due to an abnormal circadian cycle of melatonin, a hormone secreted by the pineal gland in the evening and induces sleep. Subjects undergoing automated peritoneal dialysis or nocturnal haemodialysis have better sleep profile compared to those on daytime dialysis.

Slow continuous ultrafiltration in a patient with anomaly of a persistent left superior vena cava.

This paper describes an uncommon case of a patient with anomaly of a persistent left superior vena cava (PLSVC). A 54-year-old man with a history of chronic kidney disease, heart failure, diabetes mellitus and hypertension was admitted to the hospital for worsening dyspnoea. During his hospital stay, heart failure was further deteriorated and he became anuric.