Identification of variants in Chinese patients with familial hematuria.

Benign familial hematuria and Alport syndrome are common causes of familial hematuria among children and young adults, which are attributable to variants in the collagen type IV alpha chain genes, , , or . The study was conducted to identify the underlying genetic causes in patients with familial hematuria. Two unrelated Han-Chinese pedigrees with familial hematuria were recruited for this study.

A COL4A5 Missense Variant in a Han-Chinese Family with X-linked Alport Syndrome.

Background: Alport syndrome (AS) is an inherited familial nephropathy, characterized by progressive hematuric nephritis, bilateral sensorineural hypoacusis and ocular abnormalities. X-linked AS (XLAS) is the major AS form and is clinically heterogeneous, and it is associated with defects in the collagen type IV alpha 5 chain gene (COL4A5).

Objective: The purpose of this research is to detect the genetic defect responsible for renal disorder in a 3-generation Han-Chinese pedigree.

Identification of a Missense Mutation in the α-galactosidase A Gene in a Chinese Family with Fabry Disease.

Introduction: Fabry Disease (FD), the second most common lysosomal storage disorder after Gaucher disease, is characterized by variable clinical manifestations, including angiokeratoma, corneal dystrophy, recurrent episodes of extremity pain, renal impairment, cardiac complications and cerebrovascular manifestations. It is caused by mutations in the α-galactosidase A gene (gene symbol GLA) on chromosome Xq22, which leads to deficiency of lysosomal α-galactosidase A (α-Gal A), and subsequent accumulation of glycosphingolipids in various tissues and organs. The aim of this study is to identify the disease-causing mutation in a five-generation Chinese family with FD.

Identification of a novel collagen type IV alpha-4 () mutation in a Chinese family with autosomal dominant Alport syndrome using exome sequencing.

Background & Objectives: Alport syndrome (AS) is an inherited disorder characterized by glomerulonephritis and end-stage renal disease (ESRD). The aim of this study was to identify the gene responsible for the glomerulopathy in a Chinese family with autosomal dominant AS using exome sequencing.

Methods: A 4-generation, 30-member Chinese Han family was enrolled in this study.

A novel heterozygous COL4A4 missense mutation in a Chinese family with focal segmental glomerulosclerosis.

Focal segmental glomerulosclerosis (FSGS) is the most common glomerular histological lesion associated with high-grade proteinuria and end-stage renal disease. Histologically, FSGS is characterized by focal segmental sclerosis with foot process effacement. The aim of this study was to identify the disease-causing mutation in a four-generation Chinese family with FSGS.

A novel FN1 variant associated with familial hematuria: TBMN?

Objective: Thin basement membrane nephropathy (TBMN), an autosomal dominant inherited condition in general, is characterized clinically by persistent hematuria and pathologically by thinning of glomerular basement membrane. TBMN is occasionally accompanied with proteinuria, hypertension and renal impairment in some cases. The aim of this study is to explore the genetic defect in a Chinese pedigree with familial hematuria.

Identification of a novel GJA3 mutation in congenital nuclear cataract.

Purpose: Congenital cataract is a visual impairment that needs correction as early as possible after birth. This study aimed to identify whether genetic defects exist in a Chinese Han pedigree with congenital nuclear cataract.

Methods: A family consisting of six members and three patients with nuclear cataract spanning three generations and 100 unrelated ethnically matched normal subjects were recruited in this study.

A novel COL4A5 mutation identified in a Chinese Han family using exome sequencing.

Alport syndrome (AS) is a monogenic disease of the basement membrane (BM), resulting in progressive renal failure due to glomerulonephropathy, variable sensorineural hearing loss, and ocular anomalies. It is caused by mutations in the collagen type IV alpha-3 gene (COL4A3), the collagen type IV alpha-4 gene (COL4A4), and the collagen type IV alpha-5 gene (COL4A5), which encodes type IV collagen α3, α4, and α5 chains, respectively. To explore the disease-related gene in a four-generation Chinese Han pedigree of AS, exome sequencing was conducted on the proband, and a novel deletion mutation c.

[Feasibility of continuous extracorporeal normothermic liver perfusion using autologous blood: a study in pigs].

Objective: To study the feasibility of sustaining the viable status of a liver graft in at least 96 h by extracorporeal perfusion using autologous blood.

Methods: Eight extracorporeal porcine liver perfusions using autologous blood were performed, each for 96 h with hepatectomy, cold preservation, cannulation of vessels, and initiation of perfusion with normothermic oxygenated porcine blood. The graft viability was assessed by metabolic, synthetic, hemodynamic, and histologic parameters.

Identification of a novel COL4A5 mutation in a Chinese family with X-linked Alport syndrome using exome sequencing.

Alport syndrome (AS) is an inherited disorder and clinically characterized by glomerulonephritis and end-stage kidney disease (ESRD). The aim of this study was to identify the gene responsible for glomerulopathy in a 4-generation Chinese pedigree. Exome sequencing was conducted in four patients of the family, and then direct sequencing was performed in other members of the pedigree.

[Evaluation of the renal replacement therapy on the liver transplant patients with acute renal failure].

Objective: To analyze the preoperative risk factors on liver transplant recipients with acute renal failure(ARF), and to evaluate renal replacement therapy (RRT) as a transitonary therapy before liver transplantation.

Methods: Liver transplant recipients with acute renal failure treated with renal replacement therapy between January 1st, 2001 and January 1st, 2008 in our center were retrospected. Clinical characteristics, the kinds of RRT and prognosis were analyzed; Logistic regression was applied to analyze the parameters that can forecast the motality of the liver transplant recipients with acute renal failure.

Preoperative risk factor analysis in orthotopic liver transplantation with pretransplant artificial liver support therapy.

Aim: To assess the value of pre-transplant artificial liver support in reducing the pre-operative risk factors relating to early mortality after orthotopic liver transplantation (OLT).

Methods: Fifty adult patients with various stages and various etiologies undergoing OLT procedures were treated with molecular adsorbent recycling system (MARS) as preoperative liver support therapy. The study included two parts, the first one is to evaluate the medical effectiveness of single MARS treatment with some clinical and laboratory parameters, which were supposed to be the therapeutical pre-transplant risk factors, the second part is to study the patients undergoing OLT using the regression analysis on preoperative risk factors relating to early mortality (30 d) after OLT.

[Preoperation risk factor analysis in orthotopic liver transplantation with pre-transplant artificial liver support therapy].

Objectives: Orthotopic liver transplantation (OLT) is an accepted therapy for selected patients with advanced liver diseases. However, the early mortality rate after OLT remains relatively high due to the poor selection of candidates with various serious conditions. The aim of this study is to assess the value of pretransplantation artificial liver support treatment in reducing the pre-operation risk factors relating to early mortality after OLT.