Iron chelators reverse organ damage in type 4B hereditary hemochromatosis: Case reports.

Rationale: Hereditary hemochromatosis (HH) is a hereditary disorder of iron metabolism. It is classified into 4 main types depending on the underlying genetic mutation: human hemochromatosis protein (HFE) (type 1), hemojuvelin (HJV) (type 2A), HAMP (type 2B), transferrin receptor-2 (TFER2) (type 3), and ferroportin (type 4). Type 4 HH is divided into 2 subtypes according to different mutations: type 4A (classical ferroportin disease) and type 4B (non-classical ferroportin disease).

Failure to place a tunneled hemodialysis catheter due to malformation of right internal jugular vein draining to subclavian vein.

The right internal jugular vein (IJV) is an important access site for hemodialysis catheterization. Venous cannulation failure is usually caused by central venous stenosis and is rarely related to vessel malformation. We herein present a case of failure to place a tunneled hemodialysis catheter into the right IJV.

[Temporally Relationship between Renal Local Clock System and Circadian Rhythm of the Water Electrolyte Excretion].

Objective: To investigate the relationship of the circadian rhythm of the urine volume and urine electrolytes excretion rate and the daily expression pattern of the clock genes and clock-controlled genes with the water electrolyte transportation circadian pattern in rat kidneys.

Methods: Male adult SD rats were exposed to in a light:dark (12:12) cycles. We collected two period urine from zeitgeber time (ZT)00:00-ZT12:00 (light time,rest period) and ZT12:00-24:00 (dark time,activity period) and then compared the urinary excretion rates of volume, sodium, potassium, and chloride at light time with those at dark time.

A novel homozygous GLUT9 mutation cause recurrent exercise-induced acute renal failure and posterior reversible encephalopathy syndrome.

Renal hypouricemia (RHU) is an autosomal recessive hereditary disease characterized by impaired renal urate reabsorption and subsequent profound hypouricemia. There are two types of RHU, type 1 and type 2, caused by the loss-of-function mutation of SLC22A12 and SLC2A9 genes, respectively. RHU predisposes affected people to exercise-induced acute renal failure (EIARF), posterior reversible encephalopathy syndrome (PRES) and nephrolithiasis.

Fanconi syndrome caused by low-dose adefovir dipivoxil.

Adefovir dipivoxil (ADV) at a low-dose (10 mg daily), which was previously considered not nephrotoxic, was reported to have induced acquired Fanconi syndrome (FS). We report one 64-year-old Chinese woman and 2 Chinese men (ages 45 and 63 years) with bone pain, and/or muscle weakness on ADV therapy were diagnosed with low-dose ADV-induced FS. The serum phosphate normalized, or nearly normalized in the first and second patients after changing ADV to entecavir with, or without phosphate supplement, but did not improve significantly in the third patient after changing ADV to tenofovir, even though he was supplied with a higher dose of phosphate.

[Effect of coicis semen oil on renal interstitial fibrosis in rats with unilateral urethral obstruction].

Objective: To study the effect and mechanism of Coicis Semen oil (Kanglaite injection, KLT) on renal interstitial fibrosis induced by unilateral ureteral obstruction (UUO).

Method: Fifty-four male SD rats were randomly divided into 3 groups, 6 in each group, the sham operated group, the model group, and the KLT group. Renal interstitial fibrosis model was established in rats by UUO.

[The relationship between urinary albumin excretion and serum uric acid in general population].

Objective: To investigate the relationship between the urinary albumin excretion (UAE) and serum uric acid in general population.

Methods: The study participants were derived from the epidemiological study on the association of metabolic syndrome and chronic kidney disease (CKD) in Pinggu district, Beijing. A total of 992 participants (463 men and 529 women) aged from 30 to 75 years were enrolled in this study.

[Clinical analysis of anti glomerular basement membrane disease with normal renal function].

Objective: To investigate the clinical and pathologic characteristics of anti-glomerular basement membrane(GBM) disease with normal renal function.

Methods: The clinical and pathologic data of 6 patients with anti-GBM disease and normal renal function in Peking Union Medical College Hospital were reviewed retrospectively. Furthermore, 29 patients with anti-GBM disease and impaired renal function in the same period in the same hospital were enrolled as the control group.