Glomerular basement membrane moth phagocytosis
Introduction
Introduction Glomerular basement membrane moth phagocytosis is one of the diagnostic criteria for nail-sacral syndrome. Judging the renal biopsy specimens can not only use the glomerular basement membrane moth phagocytosis, it must be identified by phosphotungstic acid staining because of its higher sensitivity, it is more valuable for diagnosis. Nail-sacral syndrome is a hereditary disease that is autosomal dominant. The incidence rate is 4.5/1 million to 22/1 million, and there is no gender difference. The patient's chance of delivery to his offspring is 50%, and the locus is linked to the adenylate cyclase and ABO blood group sites on chromosome 9. Looij et al., based on their own data and data, concluded that if a patient with this syndrome family had significant clinical kidney performance, the risk of developing kidney disease was 1/4, and the probability of developing renal failure was 1/ 10.
Cause
Cause
Etiology: The syndrome is autosomal dominant, and the locus of the gene is linked to the adenylate cyclase and ABO blood group on chromosome 9.
Pathogenesis: Little is known about the pathogenesis of this syndrome. Some people think it is a collagen disease, which is abnormal during the synthesis, assembly or degradation of collagen. The cytological mechanisms of this disease have not been studied. The lack of non-glomerular basement membrane damage in pathological changes suggests that the various damages in this syndrome may be due to different mechanisms, and not all lesions are associated with basement membrane abnormalities. A small number of patients developed anti-glomerular basement membrane nephritis, supporting the hypothesis that glomerular basement membrane components are abnormal. Using a monoclonal antibody against the Goodpasture epitope, it was found that the glomerular basement membrane of 2/3 patients with renal biopsy specimens did not bind to the monoclonal antibody, suggesting a basement membrane for this syndrome. There is some degree of heterogeneity in the components, which also suggests the presence of Goodpsture antigen deletion or alteration. It is worth noting that it is not clear whether this is a primary or secondary change in this syndrome.
Examine
an examination
Related inspection
Maximum excretion test of uric acid renal tubular ammonia hippuric acid
The main diagnosis of nail-sacral syndrome is family history. The typical clinical manifestations are X-ray signs of bone and proteinuria. Renal biopsy is performed as necessary.
Clinically more common in adolescents, the main manifestations of kidney damage are proteinuria, microscopic hematuria and hypertension, occasionally nephrotic syndrome, the course of disease is relatively benign, only 10% of patients enter the kidney failure late. Extrarenal manifestations include nail dystrophies, absent bones on one or both sides, elbow deformities, angular pelvis, and other skeletal abnormalities. Nail-sacral syndrome is mostly caused by difficulty in walking due to lack of humerus. It can be diagnosed according to typical skeletal changes, and can be diagnosed with kidney damage. Radiological examination showed that the humeral angle was a characteristic change and had a clear diagnostic significance.
It has been reported that a small number of patients have ultrastructural changes in the glomerular basement membrane without bones, skin, nails, and other typical manifestations of this syndrome. These patients are considered to be the frustration or single nephrotic variant of the syndrome. . However, the electron micrographs published by these institutes do not strongly support this view.
Judging the renal biopsy specimens can not only use the glomerular basement membrane moth phagocytosis, it must be identified by phosphotungstic acid staining because of its higher sensitivity, it is more valuable for diagnosis.
Diagnosis
Differential diagnosis
It should be differentiated from other diseases that cause kidney damage and bone disease.
