X-linked Alport syndrome associated with a synonymous p.Gly292Gly mutation alters the splicing donor site of the type IV collagen alpha chain 5 gene.

Background: X-linked Alport syndrome (XLAS) is a progressive hereditary nephropathy caused by mutations in the type IV collagen alpha chain 5 gene (COL4A5). Although many COL4A5 mutations have previously been identified, pathogenic synonymous mutations have not yet been described.

Methods: A family with XLAS underwent mutational analyses of COL4A5 by PCR and direct sequencing, as well as transcript analysis of potential splice site mutations.

Serum hepcidin levels and reticulocyte hemoglobin concentrations as indicators of the iron status of peritoneal dialysis patients.

Hepcidin is the key mediator of renal anemia, and reliable measurement of serum hepcidin levels has been made possible by the ProteinChip system. We therefore investigated the iron status and serum hepcidin levels of peritoneal dialysis (PD) patients who had not received frequent doses of an erythrocytosis-stimulating agent (ESA) and had not received iron therapy. In addition to the usual iron parameters, the iron status of erythrocytes can be determined by measuring reticulocyte hemoglobin (RET-He).

[Clinical usefulness of reticulocyte hemoglobin equivalent (RET-He) in patients at the pre-dialysis stage and in patients on peritoneal dialysis].

Background: Evaluation of the iron status of patients with renal anemia provides information essential to prescribing adequate rHuEPO therapy. Cellular iron status can be determined by the recently available method of measuring the reticulocyte hemoglobin equivalent (RET-He). We previously showed that RET-He values were correlated with conventional parameters and with a direct marker of the reticulocyte hemoglobin (CHr) content of hemodialysis patients.

[Clinico-pathological features and outcome in adult patients with Henoch-Schönlein purpura nephritis].

We examined the data of 24 patients with Henoch-Schönlein purpura nephritis (HSPN) over a 5-year follow-up period. Proteinuria, sediment RBC and CRP significantly decreased between the time of diagnosis and the end of the 5-year period. In the steroid usage group (n = 16), proteinuria was significantly higher, and crescent formation was significant higher at the time of diagnosis than in the non-steroid usage group (n = 8).

Combined cyclosporine and prednisolone therapy in adult patients with the first relapse of minimal-change nephrotic syndrome.

Background: Although minimal-change nephrotic syndrome (MCNS) is highly steroid-responsive, some patients show frequent relapses, necessitating administration of repeated courses of prednisolone (PSL) at high doses. The adverse effects of long-term PSL treatment include osteoporosis, infection, diabetes, cataract, etc., most of which are serious.

Monitoring of blood cyclosporine concentration in steroid-resistant nephrotic syndrome.

Objective: Cyclosporine has been used for patients with nephrotic syndrome. Because of substantial inter- and intra-patient variability and a narrow therapeutic window, drug monitoring of cyclosporine is mandatory. To confirm the therapeutic effects of a cyclosporine microemulsion (CSAME), the absorption profile of the agent after preprandial administration was determined in steroid-resistant patients with refractory nephrotic syndrome.

[Effects of steroid therapy on membranous nephropathy].

Background: Although membranous nephropathy is a common cause of nephrotic syndrome in adults, its treatment remains under debate.

Methods: To clarify the effects of steroid therapy, the data of 51 Japanese adult patients with idiopathic membranous nephropathy who received treatment at our department were analyzed retrospectively. We divided the patients with nephrotic syndrome and a serum creatinine level <1.

Patterns in the prevalence of hepatitis C virus infection at the start of hemodialysis in Japan.

Background: Although hepatitis C virus (HCV) infection is a persistent public health concern in hemodialysis patients, there seem to have been only a few reports on the prevalence of HCV at the start of hemodialysis. In this study we investigated whether patients starting on hemodialysis therapy are positive for anti-HCV antibody or not.

Methods: The 400 patients who began regular hemodialysis between February 2003 and June 2007 were enrolled in this study.

[Case of membranous nephropathy associated with argyria].

We experienced a case of membranous nephropathy associated with argyria. The patient was a 78-year-old woman who had noticed blue skin of the face and azure lunulae for 8 years. She was admitted to our hospital for edema and proteinuria.