2018年 · 第34卷第03期

hypoparathyroidism-sensorineural deafness-renal dysplasia (HDR) is a rare genetic disorder, also known as Barakat syndrome. The disease is often characterized by low calcium, deafness and renal insufficiency (or dysplasia) in clinic, and is an autosomal dominant genetic disease. Most patients are caused by GATA3 gene mutation, which triggers that the haploid dose of protein after transcription is insufficient to maintain the normal physiological function of cells. The GATA3 protein encoded by GATA3 gene belongs to the zinc finger protein of GATA transcription factor family, which is involved in the development of human parathyroid gland, hearing system, kidney embryo, and regulates cell differentiation and cytokine expression. We diagnosed and treated a patient with Barakat syndrome, observed and analyzed the clinical manifestations and laboratory tests of the patient, and performed genetic examination of his family, which is reported below.

At present, the main drugs that inhibit herpesvirus and cytomegalovirus are nucleoside analogs, including acyclovir, valacyclovir, etc. Valacyclovir has the characteristics of good water solubility, high oral bioavailability and mild adverse reactions. In recent years, it has almost replaced acyclovir at home and abroad, and has become the main drug for the prevention and treatment of herpes virus and cytomegalovirus infection. However, valacyclovir can cause a certain degree of neuropsychiatric symptoms, especially for patients with acute and chronic renal failure. A case of severe neurotoxicity in a patient on peritoneal dialysis (peritoneal dialysis) induced by valacyclovir diagnosed in our hospital is reported as follows.

It is a common diagnosis and treatment process for patients with end-stage kidney disease (ESRD) who are about to enter dialysis but have not established permanent vascular access in advance in China^[1]。 However, even if it meets the specifications, iatrogenic vascular access resources will still be depleted in the actual clinical diagnosis and treatment process. This paper reports a case of establishing access by the above-mentioned routine procedure, placing a double-lumen hemodialysis catheter in the right internal jugular vein and establishing an autologous arteriovenous fistula in the right wrist at the same time, which eventually led to complete occlusion of the central vein, in order to attract the attention of medical practitioners and further improve the standardized operation procedure of establishing vascular access.

Buttonhole puncture is often recommended for autologous arteriovenous fistula, but there is no clear conclusion whether it can be applied to artificial vascular fistula puncture. Our experience is summarized and reported as follows.

Hemodialysis is one of the important ways to improve the quality of life of patients with end-stage kidney disease. Autologous arteriovenous fistula (AVF) is the most ideal hemodialysis pathway because of its relatively simple establishment, low cost, sufficient blood flow, high patency, low complications and beneficial prognosis. However, after the establishment of AVF, the fistula stenosis was caused by hemodynamic changes, repeated puncture and post-puncture compression, which caused the AVF to lose its function. A survey shows that the 1-year patency rate of AVF is only 60%^[1]。 Vascular access stenosis causes the hospitalization rate of patients with end-stage kidney disease to increase. Statistics show that more than 30% of maintenance hemodialysis patients in the United States are hospitalized for vascular access, and the annual cost of treating access complications is as high as $1 billion, which brings a heavy economic burden to patients and society^[2]。 Well-functioning dialysis vascular access is a necessary condition to achieve adequate dialysis and improve the quality of life of dialysis patients. At present, surgical reconstruction, intra-graft fistula (AVG), secondary fistula (SAVF), central venous catheterization (CVC) and endovascular therapy can be used to treat arteriovenous fistula stenosis. The purpose of this article is to explore the clinical efficacy of percutaneous trans-luminal angioplasty (PTA) in the treatment of AVF stenosis.

Alport syndrome, also known as hereditary progressive nephritis, is clinically characterized by hematuria, proteinuria and progressive renal dysfunction. Some patients may be complicated with sensorineural deafness, ocular abnormalities, esophageal leiomyoma and other extrarenal manifestations^[1]。 The disease is caused by the gene COL4An, which encodes the α 3~ α 5 chain of type IV collagen in the glomerular basement membrane (n=3, 4, 5) due to gene mutation^[2]。 About 85% of patients with Alport syndrome are X-linked Alport syndrome (XL Alport syndrome, OMIM 301050) caused by mutations in COL4A5 or COL4A5 and COL4A6 genes. Among them, male patients are more ill, with 90% of kidney failure before the age of 40, and female patients are relatively mild^[3,4,5]。 About 15% of patients with Alport syndrome are autosomal Alport syndrome caused by COL4A3 or COL4A4 gene mutations, among which autosomal recessive Alport syndrome (AR Alport syndrome, OMIM 203780) patients are the predominant, and almost all of them develop renal failure before the age of 30^[6]。 In order to further improve and standardize the clinical diagnosis and treatment of Alport syndrome, on the basis of extensively soliciting the opinions of relevant domestic pediatric experts and some nephrology experts, and combining the international opinions on the diagnosis and treatment of this disease, the following recommendations are formed.

acute kidney injury (AKI) is a common complication after cardiac surgery. The incidence rate is about 5% to 45% depending on the definition of AKI^[1,2]。 The mortality rate of patients with acute kidney injury (CS-AKI) after cardiac surgery is high, among which the mortality rate of CS-AKI patients receiving renal replacement therapy (RRT) is as high as 54% ~82%^[3,4]。 Perioperative acute kidney injury is caused by a variety of causes, among which hypoperfusion is the main mechanism of pathogenesis^[5]。 Insufficient perfusion can lead to kidney ischemic injury. After acute kidney injury, it leads to overload of body volume and electrolyte disorder, which easily leads to heart failure, thus aggravating acute kidney injury and producing a vicious circle. Therefore, the control and regulation of blood pressure is particularly important. Vasoactive drugs can affect renal perfusion by regulating blood pressure and acting directly on renal blood vessels. In recent years, with the advancement of cardiac surgery technology, the number of patients undergoing cardiac surgery is increasing day by day, the types of surgery and patients' conditions are becoming increasingly complex, and a single blood pressure control target is no longer applicable to all patients. More refined management of cardiac surgery patients and minimizing postoperative adverse events such as acute kidney injury have become one of the goals of cardiac surgery and intensive care unit doctors. At present, the relationship between perioperative blood pressure and acute kidney injury in different types of cardiac surgery is still lacking. Therefore, it is particularly important to carry out research on perioperative blood pressure management and acute kidney injury in cardiac surgery.

Diabetic nephropathy is a serious microvascular complication of diabetes mellitus, which is the main cause of end-stage kidney disease in developed countries^[1]Diabetic nephropathy accounts for 40% of patients with end-stage kidney disease in the United States and Europe^[2]。 In 2011, diabetes also became the leading cause of chronic kidney disease among hospitalized patients in China^[3]。 In 2013, there will be 382 million people with diabetes worldwide, and the number of people with diabetes is expected to reach 592 million in 2035^[4]。 Such a huge base of diabetic patients means that there will be more patients with diabetic nephropathy. If diabetic patients have renal insufficiency, it will further aggravate microvascular dysfunction and significantly increase the risk of cardiovascular disease and cognitive decline.^[5,6]Increase the social and economic burden. Therefore, it is urgent to accelerate the research on the mechanism of diabetic nephropathy and explore new therapeutic targets. At present, some scholars have discovered in 2007 that long non-coding RNA (LncRNA) plasmacytoma variant translocation gene 1 (PVT1) is closely related to the progression of type 1 and type 2 diabetic nephropathy to end-stage kidney disease^[7,8]At the same time, the team discovered in 2013 that LncRNA-PVT1 and its derived miR-1207-5p increased the accumulation of renal extracellular matrix (ECM) under hyperglycemic conditions and promoted the occurrence and development of diabetic nephropathy^[9]。 In this paper, the research status of the involvement of LncRNA in diabetic nephropathy is reviewed below.