1/3. A boy with Japanese Dent's disease exhibiting abnormal calcium metabolism and osseous disorder of the spine: defective megalin expression at the brushborder of renal proximal tubules.We encountered a 16-year-old boy with Japanese Dent's disease who exhibited renal insufficiency and an osseous disorder of the spine. proteinuria first was noted at the age of 2 years. At 13 years, the patient underwent analysis of the CLCN5 gene, which identified missense mutation (I524K) in exon 10. During follow-up, a marked increase in urinary beta2-microglobulin was associated with mild deterioration of renal function. At the age of 15 years, hypocalcemia (7.5 mg/dl) accompanied by an increased plasma concentration of alkaline phosphatase was first detected. At that time, plasma concentration of 25(OH)D3 and 1'alpha25(OH)2D3 were low accompanied by a high plasma parathyroid hormone concentration. A renal biopsy specimen revealed tubulointerstitial alterations including mononuclear cell infiltration, partial fibrosis and focal glomerular sclerosis. Immunofluorescence revealed weak, discontinuous staining of megalin along the brushborder of renal proximal tubules. Western blotting demonstrated decreased urinary excretion of megalin. Thus, clinical manifestations and prognosis may vary in Japanese Dent's disease. Reduced megalin expression may have disturbed calcium homeostasis, leading to osseous disorder in our patient.- - - - - - - - - - ranking = 1keywords = tubulointerstitial (Clic here for more details about this article) |
2/3. Tubulointerstitial nephritis and fanconi syndrome in primary biliary cirrhosis.Primary biliary cirrhosis is a chronic cholestatic liver disease of unknown cause that predominantly affects middle-aged women. Distal tubular acidosis is the main renal complication of primary biliary cirrhosis. Tubulointerstitial nephritis and fanconi syndrome have been reported more rarely. We report on 2 patients with primary biliary cirrhosis who presented with tubulointerstitial nephritis and fanconi syndrome and review similar cases published previously. serum from 1 patient exerted an inhibitory effect on pyruvate dehydrogenase and alpha-ketoglutarate dehydrogenase, 2 mitochondrial enzymes that are the main targets of antimitochondrial antibodies in primary biliary cirrhosis. Antimitochondrial antibodies may have a role in the genesis of tubulointerstitial nephritis and fanconi syndrome, 2 typical renal features of mitochondrial cytopathies. Tubulointerstitial nephritis and fanconi syndrome have to be added to the spectrum of renal diseases associated with primary biliary cirrhosis.- - - - - - - - - - ranking = 4.0766439301106keywords = tubulointerstitial, tubulointerstitial nephritis, nephritis (Clic here for more details about this article) |
3/3. Primary sjogren's syndrome with secondary hyperparathyroidism.The case history of a 43-year-old woman with primary sjogren's syndrome is presented: in 1970, xerostomia and keratoconjunctivitis sicca; in 1980, arthritis; in 1982, chronic tubulointerstitial nephritis with renal tubular acidosis and vasopressin-resistant hyposthenuria. The renal function gradually deteriorated. Chronic atrophic gastritis with vitamin B12 deficiency and chronic duodenitis with diminished disaccharidase activity in the mucosa were also diagnosed. From 1985, repeated multiple fractures of the ribs occurred, with secondary hyperparathyroidism in the background. The renal and intestinal involvement suggests that, besides the elevated parathyroid hormone level, an acquired vitamin d deficiency plays a pathogenetic role in severe osteopenia. The patient is being treated at present by haemodialysis, and subtotal parathyroidectomy and renal transplantation are planned.- - - - - - - - - - ranking = 1.887652191576keywords = tubulointerstitial, tubulointerstitial nephritis, nephritis (Clic here for more details about this article) |