2017年 · 第33卷第08期

Patient, female, 33 years old. In May 2013, the patient was admitted to the Department of Nephrology, Affiliated Hospital of Qingdao University due to "recurrent acute pyelonephritis for 4 years". The patient's parents, aged 56 and 53, were married by close relatives and denied any history of serious illness. The only sibling sister died of unknown renal failure at the age of 25. The family diagram is shown inFigure 1。 Height 160 cm, weight 55 kg, body mass index (BMI) 21.48 kg/m²Ophthalmic examination was normal. Ultrasound revealed bilateral renal calcium deposits. Laboratory tests: hypocalcemia (1.42 mmol/L), mild hypomagnesemia (0.65 mmol/L), renal insufficiency [Scr 250 μ mol/L, EPI-eGFR =21.1 ml·min^-1· (1.73 m²)^-1], serum parathyroid hormone and 25-hydroxyvitamin D normal, 24 h urinary calcium 3.9 mmol/1.73 m²。 Blood HCO_3-22 mmol/L, urine pH<5.3。 During the subsequent 3-year follow-up, the patient underwent multiple laboratory tests, all of which suggested significant renal magnesium loss (urinary magnesium excretion fraction ≈35%, normal reference value<4%) and hypercalciemia (urinary calcium/creatinine ≈0.44 mol/mol, normal reference value 0.15~0.33 mol/mol). With calcitriol and calcium carbonate treatment, hypocalcemia was difficult to correct, but blood magnesium always fluctuated within the normal range (0.70~0.91 mmol/L). Abdominal CT in May 2014 and February 2016 showed progressive worsening of renal calcium deposits and renal parenchymal atrophy, seeFigure 2。 Eventually, the patient entered the end-stage renal disease (ESRD) stage at the age of 36 and received blood purification therapy. During follow-up, the annual rate of decline in eGFR was 4.3 ml·min^-1· (1.73 m²)^-1but 2.1 ml·min before age 33^-1· (1.73 m²)^-1with an overall decrease rate of 2.5 ml·min^-1· (1.73 m²)^-1。 The examination of the other 8 family members of the proband showed no signs of hypomagnesemia, hypercalciuria, renal calcium deposition or renal insufficiency.

Hypotension during dialysis (IDH) is a common complication during dialysis in patients with end-stage renal disease (ESRD) undergoing hemodialysis (HD), with an incidence of 20% to 30%^[1]。 The pathogenesis of IDH is complex. At present, it is believed that the occurrence of IDH is mainly related to vascular dysfunction, abnormal cardiac function, autonomic dysfunction, decreased blood volume and decreased plasma osmotic pressure during dialysis. In recent years, the incidence of IDH has increased year by year due to the increase of elderly patients with chronic kidney disease and diabetic nephropathy^[1]IDH has gradually become an important concern for clinicians. Some studies have found that the frequent occurrence of IDH may be related to poor prognosis of patients, but at present, there is still controversy on the diagnostic criteria of IDH in the world, and the criteria adopted in IDH-related studies are also different. The correlation between IDH and the occurrence and mortality of cardiovascular diseases in patients has not yet reached a consensus. For the above reasons, we review the diagnostic criteria of IDH, the relationship between IDH and cardiovascular disease and clinical prognosis involved in the studies to date.

cystinosis refers to the deficiency of L-cystine transporter (cystinosin) on the lysosomal membrane due to CTNS gene mutation, and cystine accumulates in the lysosomes, causing the dysfunction of multiple organs such as eyes, kidneys, nerves and endocrine glands. Autosomal recessive genetic disease. The incidence of the disease ranges from 1/192 000 to 1/115 000, with the highest incidence among Pakistani people living in the Midlands of the United Kingdom, about 1/3600^[1]。 In recent years, some progress has been made in the research of this disease abroad, but only a case has been reported in China, which may be related to the low incidence and insufficient understanding of this disease. Early diagnosis and early treatment are crucial for delaying the appearance of complications and prolonging the life of patients. Therefore, we review and review the relevant literature as follows.

chronic kidney disease (CKD) is a common disease that threatens human health. chronic kidney disease-mineral and bone disorder (CKD-MBD) is a common complication. The main manifestations include: abnormal metabolism of calcium, phosphorus, parathyroid hormone (PTH) or vitamin D; Abnormalities in bone transformation, bone mineralization, bone mass, linear bone growth, or bone strength; Calcification of blood vessels or other soft tissues. PTH is the most reliable marker reflecting parathyroid function, which is involved in regulating many processes of mineral metabolism. The accurate detection of blood PTH level plays an important role in clinical diagnosis, treatment and prognosis of patients with hyperparathyroidism/hypoparathyroidism, hypercalcemia, CKD-MBD, etc. At present, the most widely used method for clinical detection of blood PTH is the 2nd generation intact PTH (iPTH) assay, which can simultaneously identify full-length (1-84) PTH and cleaved (7-84) PTH fragments. (7-84) PTH accumulates in large quantities in dialysis patients, and its half-life is significantly longer than that of (1-84) PTH. It can antagonize the biological activity of (1-84) PTH in bones and kidneys. The 3rd generation assay does not recognize (7-84) PTH, and has a good clinical application prospect. This article reviews the metabolic status of different PTH fragments, the progress of PTH detection methods, the evaluation value of different PTH fragments on the efficacy of parathyroidectomy (PTX) in patients with secondary hyperparathyroidism (SHPT), and the effect and mechanism of bone, kidney, cardiovascular disease, cardiovascular or all-cause death, so as to provide useful information for further understanding the important targets of pathogenesis of CKD-MBD patients and realizing multidisciplinary accurate diagnosis and treatment.