نتایج جستجو برای: tubular syndrome
تعداد نتایج: 649657 فیلتر نتایج به سال:
Arthrogryposis-renal tubular dysfunction-cholestasis syndrome is a rare multisystem disorder, originally described in 1973 and to date only 62 patients have been reported. Herein, we reported on a neonate with arthrogryposis-renal tubular dysfunction-cholestasis syndrome presenting very early after birth. Recurrent febrile illnesses, failure to thrive, ichthyosis, hypothyroidism, and bilateral ...
Background/Aims. Acute kidney injury is a common problem for patients with cirrhosis and is associated with poor survival. We aimed to examine the association between type of acute kidney injury and 90-day mortality. Methods. Prospective cohort study at a major US liver transplant center. A nephrologist's review of the urinary sediment was used in conjunction with the 2007 Ascites Club Criteria...
The study of the proximal tubular function in inherited renal Fanconi syndrome offers a unique opportunity to augment insights in proximal tubular transport and signalling pathways and allows a better interpretation of tests applied for the evaluation of proximal tubular function in acquired disorders. The causes of inherited and acquired renal Fanconi syndrome are listed in Table 1. It is a co...
introduction: acute renal failure is an uncommon complication of idiopathic nephritic syndrome in children. renal failure could be secondary to causes such as sever hypovolumia, acute tubular necrosis, interstitial nephritis, bilateral renal vein thrombosis, acute pyelonephritis and rapid progression of original glomerular disease. it may be idiopathic if the underlying cause is undetermined. a...
Of nine women with hyperglobulinaemic renal tubular acidosis four presented with acidosis and five had the "incomplete" form of the disorder. Seven patients had nephrogenic diabetes insipidus, but none had the Fanconi syndrome. Investigation showed abnormal immunoglobulins and autoantibodies in all nine patients. Diseases coexisting with renal tubular acidosis were Sjögren's syndrome, hyperglob...
A 45-year-old Japanese woman, treated for Bartter's syndrome for 14 years, presented with complaints of numbness in her extremities and polyarthralgia. She was diagnosed to have Gitelman's syndrome with chondrocalcinosis, which were effectively treated with spironolactone and magnesium supplementation. Gitelman's syndrome is a primary renal tubular disorder characterized by hypomagnesemia and h...
BACKGROUND Medullary nephrocalcinosis and distal renal tubular acidosis are closely associated and each can lead to the other. These clinical entities are rare in patients with nephrotic syndrome and polycythaemia is an unusual finding in such patients. We describe the presence of medullary nephrocalcinosis, distal renal tubular acidosis and polycythaemia in a patient with nephrotic syndrome du...
Background: The most common renal disease in Sjogren’s syndrome (SjS) is tubulo-interstitial nephritis, which is responsible for renal tubular acidosis type 1 (RTA-1) in around 20% of patients. Osteomalacia rarely occurs as the first manifestation of a renal tubule disorder due to a connective tissue disease such as SjS. Results and conclusion: We report a 47-year-old woman with tubular acidosi...
The renal tubule plays an important role in fluid and electrolyte homeostasis. Renal tubular disorders may affect multiple ( e.g., Fanconi syndrome) or specific (e.g., nephrogenic diabetes insipidus, renal glucosuria) tubular functions. Most conditions are primary and monogenic but occasionally are secondary to other disorders (focal segmental glomerulosclerosis, cystinosis, Lowe syndrome). Tub...
BACKGROUND In renal Fanconi's syndrome, dysfunction in proximal tubular cells leads to renal losses of water, electrolytes, and low-molecular-weight nutrients. For most types of isolated Fanconi's syndrome, the genetic cause and underlying defect remain unknown. METHODS We clinically and genetically characterized members of a five-generation black family with isolated autosomal dominant Fanco...
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