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Rare diseases refer to the diseases with low prevalence,among which more than 150 kinds involve the kidney.Most of the rare renal diseases have genetic background.Due to complex etiology and diverse clinical phenotypes,most patients have progressed to the final stage of the disease before a clear diagnosis.Gene testing is a powerful tool for the diagnosis of rare renal diseases.The emergence of the next-generation sequencing (NGS) significantly improves the diagnostic efficiency and quality and provides an unprecedented opportunity to understand the molecular genetic basis of rare renal diseases and further select or develop targeted therapies.This article reviews the application progress,challenges,and prospects of NGS in rare kidney diseases.

Asymmetric dimethylarginine (ADMA) has been involved in the development mechanism of cardiovascular disease (CVD) in patients with chronic kidney disease. The aim of this study is to investigate the relationship between the plasma ADMA levels and echocardiography, and understand the relationship between ADMA and left ventricular function. All of the patients were divided into three groups, including End-stage renal disease patients on CAPD, Conservative treatment in patients with ESRD and Control group. All the cases in the outpatient clinic or hospital at the next morning were collected fasting venous blood 2 ml. All cases were detected by American GE company Vivid7 Colour Doppler Ultrasonic Echocardiograph to detected left ventricular end-diastolic dimension (LVEDD), Left atrial diameter (LAD), Left ventricular posterior wall thickness in diastole (LVPWT), Interventricular septum thickness in diastole (IVST), left ventricular ejection fraction (LVEF). There were significant differences among all of the three groups for the GFR, urine albumin, SGA, Hb, iPTH and ALB levels. There was statistically significant difference for serum ADMA levels among three groups (F = 34.047, P = 0.000). CAPD patient plasma ADMA levels were negatively correlated with LVEF, and positively correlated with LVMI, LVM, LVEDD, LAD. Conservative treatment group had higher proportion of average artery, left ventricular hypertrophy and left ventricular mass index. The peritoneal dialysis fluid ADMA levels of CAPD patients with peritoneal were positively correlated with LVEF (r = 0.367, P = 0.046), negatively correlated with LVMI. In conclusion, ADMA may be involved in change of left ventricular structure, function, and remodeling process through a complex network.

Sixteen AIDS patients complicated with toxoplasmic encephalitis (TE) were retrospectively analyzed between August 2008 to August 2009 with a mean age of (37.0 +/- 11.6) years. The most common clinical symptoms were headache (68.8%, 11/16) and fever (62.5%, 10/16), and 6 with Babinski sign (37.5%). 81.3%(13/16) were with CD4+ cells < 200/mm. Both sera and CSF showed 62.5% (10/16) TOXO-IgG positive by ELISA. CT and MRI scan demonstrated bilateral and multiple lesions with marked peripheral edema effect, and an enhanced scanning showed small finger ring as the major feature. 15 patients got improved by either oral sulphadiazine tablets or sulphadiazine tablets plus clindamycin capsule, 10 cases received combined HAART treatment, and 1 case died with septic shock.

Objective: To investigate the preventive and therapeutic effects of Astragalus and Angelica mixture A&A on renal tubulointerstitial fibrosis after unilateral ureteral obstruction UUO in rats and their mechanisms., Methods: UUO rats were randomly divided into Sham, UUO, A&A or ACEI groups. A&A, ACEI or the same amount of water was administered by gavage beginning 24 hours before UUO preparation and continued through ten days after UUO. Sera and the kidney tissues were collected from each group on the tenth day. Scr and BUN were measured. Trichrome staining, measurement of tubulo interstitial damage index and immunohistochemical studies localizing alpha-smooth muscle actin alpha-SMA , TGF-beta1, fibronectin FN , laminin LN were carried out., Results: In UUO rats, the tubular-interstitial damage index, the expressions of alpha-SMA, TGF-beta1, FN and LN were all increased compared with those of Sham group. The tubulo interstitial damage index had positive correlation with expressions of alpha-SMA, TGF-beta1, FN and LN. A&A significantly ameliorated deterioration of renal function, tubulo interstitial damage index and inhibited the over-expressions of alpha-SMA, TGF-beta1, FN and LN in UUO rats. These anti-fibrotic effects were similar to those affected by ACEI., Conclusion: In renal interstitial fibrosis-induced UUO rats, A&A retard the progression of renal fibrosis and renal function deterioration by inhibiting myofibroblasts and suppressing TGF-beta1 expression, which may consequently result in a decreased production of extracellular matrix.