paraglomerular hyperplasia
Introduction
Introduction Glomerular hyperplasia syndrome, alias: Barth Syndrome, Battle's syndrome, Bartter syndrome, congenital hyperaldosteronism, chronic idiopathic hypokalemia, Barttersyndrome. This syndrome is an autosomal recessive disorder, first reported by Bartter (1962) and called Bartter syndrome. Renal small ball hyperplasia syndrome with severe hypokalemia, alkalosis mainly blood sodium, chlorine are low, normal blood pressure with polydipsia, constipation, dehydration. Plasma renin-angiotensin and aldosterone were elevated. This syndrome is an autosomal recessive disorder, first reported by Bartter (1962) and called Bartter syndrome. Its clinical features are severe hypokalemia and metabolic alkalosis, accompanied by hyperrenin hyperaldosteronism, mesangial hyperplasia and hypertrophy, renal tubular maintenance and dysfunction, but no hypertension and edema And no response to exogenous angiotensin II. This syndrome is considered to be a clinical syndrome caused by mutations in ion channel genes. The disease is also known as congenital hyperaldosteronism, chronic idiopathic hypokalemia, and juxtaglomerular hyperplasia syndrome. Molecular diagnostic studies in recent years have revealed three different clinical and genetic types of Bartter syndrome, namely the congenital Bartter syndrome typical of Bartter syndrome and Gitelman syndrome. The so-called Bartter syndrome refers to the typical Bartter syndrome. Congenital Bartter syndrome patients have two genotypes, type I is due to N+-K+-2CL-degeneration gene mutation, type II is due to ROMK gene mutation, typical Bartter syndrome is due to CLC-kb Caused by mutations in the channel gene.
Cause
Cause
The cause of this disease is still inconclusive. Most scholars believe that it is an autosomal recessive hereditary disease. There have been reports of 5 cases of 9 siblings and a case of 4 consecutive generations of 4 cases. Modern molecular biology techniques have also revealed that Bartter syndrome is caused by mutations in ion transporter genes on renal tubular epithelial cells. There is a Na+-K+-2Cl-gene mutation in infant Batter syndrome. The gene is located at 15q12-21, with 16 exons, encoding 1099 amino acids for Na+-K+-2Cl-channel. More than 20 mutations have been found. The syndrome is caused by a mutation in the CICNKB gene, which is located at 1q38, encoding a basal side of the 687 amino acid Cl-channel. It has been found that about 20 mutation types of adult Bartter syndrome, also known as Batter-Gietlman syndrome, The gene was localized to 16q913 encoding 1021 amino acids due to mutation of the thiazide-sensitive Na+-K+ channel gene (SCI12A3), and up to 40 mutations have been found. In addition, potassium channel gene (ROWK) mutations have been found in some patients. Therefore, Batter syndrome can be identified as a clinical syndrome caused by mutations in several ion channel genes described above.
Lipoprotein glomerulopathy (lipoprotein glomerulopathy) is a kidney disease characterized by the presence of lipoprotein emboli in the glomerular capillaries and extrarenal lipoprotein embolism. Lipoprotein glomerulopathy is more common in men, with a male to female ratio of 15:8 and an average age of onset of 32 years (4 to 49 years). Most cases are sporadic and a few are familial.
Examine
an examination
Related inspection
Glomerular filtration fraction glomerular function test
The diagnosis points of this disease are:
1, hypokalemia (1.5 ~ 2.5mmol / L).
2, high urine potassium (> 20mmol / L).
3. Metabolic alkalosis (plasma HCO3->30mmol/L).
4, hyperrenalemia.
5. Hyperaldosteronism.
6, is not sensitive to exogenous vasopressin.
7, renal glomerular hyperplasia.
8, hypochloremia (urine chlorine > 20mmol / L).
9, blood pressure is normal.
10, renal biopsy in line with the characteristics of this disease combined with the clinical manifestations of this disease can make a diagnosis.
Diagnosis
Differential diagnosis
Need to be identified with the following symptoms:
1, glomerular pathological changes: morphological changes in glomerular cases, one of the manifestations of IGA nephropathy. IgA nephropathy, also known as Berger's disease, is a special type of glomerulonephritis, which occurs mostly in children and young people. It usually has upper respiratory tract infection before onset. The lesion is characterized by mesangial mesangial hyperplasia. The mesangial membrane is detected by immunofluorescence. The area has IgA deposits.
2, glomerular sclerosis: focal glomerulosclerosis (focal glomeruloscerosis) refers to glomerular capillary vasospasm with focal segmental sclerosis or hyaline degeneration, no obvious cell proliferation of a type of glomerular capillary Blood vessels. Can be used as mesangial hyperplasia, mesangial IgM deposition and focal glomerular sclerosis, but minimally pathological nephropathy is resistant to steroids and the consequences of repeated episodes of chronic progression. Early renal biopsy of primary nephrotic syndrome, which is ineffective against hormones, is focal glomerular sclerosis. Therefore, there is still debate about whether the disease is an independent glomerular disease. However, from a clinical pathological type that is different from other kidney diseases, it can also be regarded as an independent disease, which is more common and has a tendency to increase gradually.
3. Increased glomerular volume: An increase in glomerular volume refers to a physiologic and pathological characteristic morphological change of glomerular volume of glomeruli caused by lipoprotein glomerulopathy.
