2018年 · 第34卷第02期

The patient was a 25-year-old male, Han nationality, who was admitted to the outpatient department of our hospital in 2016 considering "chronic renal failure". When the patient was 1 year old, he had symptoms of urethral stone discharge, which was not paid attention to and did not see a doctor. Eight years ago, he underwent surgical treatment for double kidney stones in a local hospital, and there was no regular follow-up diagnosis and treatment. Nausea and vomiting occurred without obvious trigger 2 weeks ago, with gastric content 3 to 4 times a day, accompanied by decreased urine output, about 600 to 700 ml a day. The local hospital examined blood creatinine 3024.0 μ mol/L, hemoglobin 55 g/L, urine red blood cells 48691/μ L, white blood cells 4403/μ L, and urine protein (3+). Ultrasound revealed multiple stones in both kidneys. Diagnosis of "double kidney stones, chronic kidney disease stage 5", hemodialysis treatment, erythropoietin supplementation and other symptomatic treatment. The parents were not close relatives, the father died unexpectedly, and the mother was in good health. There is no family history of the disease. Physical examination at admission: pulse 110 beats/min, breathing 19 beats/min, blood pressure 153/89 mmHg, body temperature 36.8℃. Conscious, energetic, no yellowing stain of skin and sclera, severe anemia, obvious swelling of superficial lymph nodes throughout the body without palpation, uniform heart rhythm, negative cardiopulmonary auscultation. Abdominal signs negative. Mild percussion pain in both kidney areas and no edema in both lower limbs. The right femoral vein dialysis catheter was seen to be indwelling. Laboratory tests: Biochemistry: albumin 32.3 g/L, urea 20.28 mmol/L, creatinine 1325.1 μ mol/L, potassium 3.97 mmol/L, calcium 2.07 mmol/L, phosphorus 1.68 mmol/L. Red blood cell count 1.91×10¹²/L, hemoglobin 52.0 g/L, platelet count 192×10⁹/L, ABO blood group A, Rh blood group positive; parathyroid hormone 218.2 ng/L; Urinary protein (2+), urine specific gravity 1.008, urine sediment red blood cell count 16.9/μ L. Imaging examination: CT urography: multiple cast stones in both kidneys; Impaired excretory function in both kidneys. SeeFigure 1。 Doppler ultrasonography: calcium deposition in the medulla of both kidneys, enhanced echo in the cortex of both kidneys, thickened echo in the liver, splenomegaly, about 52 mm thick, enlarged left atrium, thickened left ventricular wall, and reduced left ventricular diastolic function. Genetic analysis: The patient had juvenile onset, recurrent attacks, multiple cast stones in both kidneys and renal failure, so primary hyperoxaluria was highly suspected. Next-generation gene sequencing was used to detect the exons and nearby regions of the genes associated with urinary system diseases in patients, and it was found that the patients carried the complex heterozygous variants of AGXT gene c.32C>G (p.P11R) and c.638C>T (p.A213V). SeeFigure 2。 The missense variant c.32C>G (p.P11R) was inherited from the mother, and its protein was changed by the substitution of No. 11 proline to arginine, and the variation frequency was 45.74%; The genetic origin of the missense variant c.638C>T (p.A213V) is unknown (probably parental), and the change of its protein is that alanine No. 213 is replaced with valine, and the variation frequency is 42.57%. Diagnosis: primary hyperoxaluria type 1 (PH1), double kidney stones, chronic kidney disease stage 5, renal anemia, renal hypertension. High-throughput hemodialysis was given three times a week for 4 h each time to correct renal anemia, chronic kidney disease mineral and bone abnormalities, control blood pressure, and establish long-term dialysis access.

Peritoneal dialysis (peritoneal dialysis) -related peritonitis is one of the most common complications in patients on peritoneal dialysis and a major cause of technical failure in patients on peritoneal dialysis. In addition, peritonitis significantly increased hospitalization and mortality in peritoneal dialysis patients^[1,2,3,4,5]。 Severe peritonitis can lead to peritoneal failure and death in peritoneal dialysis patients, especially in long dialysis age and elderly peritoneal dialysis patients. With the improvement of peritoneal dialysis catheter connection and related technology, the incidence of peritonitis has decreased greatly, but it is still the main reason restricting the development of peritoneal dialysis. Foreign peritoneal dialysis centers reported that the incidence of peritonitis was 0.06~1.66 times/patient-year^[6]Large peritoneal dialysis centers in China reported 0.14~0.17 times/patient-year^{[7,8,9,10,11]}。 Therefore, the standardized diagnosis and treatment of peritoneal dialysis-related peritonitis is still an important link to promote the cause of peritoneal dialysis.

Pregnancy is a very complex and harmonious physiological process. Under the influence of hormones produced by the placenta and neuroendocrine, a series of physiological changes will occur in each maternal system to adapt to the needs of fetal growth and development. In addition to the most significant uterine changes, the maternal urinary system and cardiovascular system also underwent significant changes: increased renal blood flow and glomerular hypertrophy led to an increase in kidney length during pregnancy by about 1 cm and an increase in kidney volume by about 30%^[1]； Systemic vasodilation during pregnancy resulted in decreased blood pressure and increased cardiac output. Renal plasma flow and glomerular filtration increased until the third trimester, but the pressure in the glomerular capsule did not increase significantly^[2]； During pregnancy, the total body fluid volume increased by 6 to 8 L, the extracellular fluid increased by 4 to 6 L, and the renal plasma volume increased by 40% to 50%^[3]。 These changes will persist until about 12 weeks after delivery^[4], reflecting the effect of pregnancy on renal function.

Renal interstitial fibrosis is a renal lesion with interstitial extracellular matrix deposition, renal tubular atrophy and inflammatory cell infiltration as the main pathological changes. It is the main outcome of many chronic kidney diseases progressing to end-stage kidney disease. At present, there is still a lack of effective treatment to slow down or reverse renal interstitial fibrosis. Therefore, it is very important to study the molecular mechanism of renal interstitial fibrosis in depth, find targeted therapies to slow down or reverse renal interstitial fibrosis early, and delay the progression of renal disease to the end stage.

Obesity is a worldwide health problem, and the prevalence of obesity among American adults has exceeded 1/3^[1]。 In October 2004, the Ministry of Health announced that the overweight and obesity rates of adults in large cities were as high as 30.0% and 12.3% respectively. Compared with the relevant data in the national nutrition survey in 1992, the overweight and obesity rates of adults increased by 39% and 97%^[2]。 Kidney injury caused by obesity 1974 by Weisinger et al.^[3]First reported, the disease was subsequently designated obesity-related glomerulopathy (ORG). Kambham et al.^[4]The data of 6818 kidney biopsies from 1986 to 2000 were analyzed, and the proportion of ORG in kidney biopsies increased from 0.2% (1986 to 1990) to 2% (1996 to 2000). Chen Huimei, General Hospital of Nanjing Military Region, China^[5]An analysis of 10 093 patients who underwent renal puncture pathology between February 2002 and November 2006 showed that the proportion of ORG with renal biopsies increased from 0.62% (February 2002 to December 2003) to 1.0% (January 2004 to November 2006). It can be seen that with the increasing number of obese patients, the incidence of ORG shows a rapid upward trend.