Fanconi Syndrome

The Fanconi syndrome consists of multiple defects in the proximal renal tubular and causes glycosuria, phosphaturia, generalized aminoaciduria and Bicarbonatverlust. It can be congenital or acquired. The symptoms are in children failure to thrive, growth retardation and rickets, adult osteomalacia and muscle weakness. The diagnosis is made by the detection of glucosuria, phosphaturia and aminoaciduria. Treatment consists sometimes in bicarbonate and potassium replacement, removal of attacking nephrotoxins and measures to prevent kidney failure.

The Fanconi syndrome consists of multiple defects in the proximal renal tubular and causes glycosuria, phosphaturia, generalized aminoaciduria and Bicarbonatverlust. It can be congenital or acquired. The symptoms are in children failure to thrive, growth retardation and rickets, adult osteomalacia and muscle weakness. The diagnosis is made by the detection of glucosuria, phosphaturia and aminoaciduria. Treatment consists sometimes in bicarbonate and potassium replacement, removal of attacking nephrotoxins and measures to prevent kidney failure. Etiology The Fanconi syndrome is either hereditary or acquired hereditary conditional Fanconi syndrome This disorder occurs mostly in the company of other genetic disturbances, esp. Of cystinosis. Cystinosis is a hereditary (autosomal recessive) metabolic disorder in which cystine in cells and tissue accumulates (and is not overly excreted in the urine as is the case with Cystinuriie. In addition to renal Tubulusdysfunktion, enter other complications of cystinosis as eye diseases , hepatomegaly, hypothyroidism and other manifestations on. the Fanconi syndrome can also occur together with Wilson’s disease, hereditary fructose intolerance, galactosemia, okulozerebrorenalem syndrome (Lowe syndrome), mitochondrial Zythopathien and tyrosinemia. the inheritance varies among different Störungen.Erworbenes Fanconi syndrome this disorder can by various medications, including some chemotherapeutic agents (eg. as ifosfamide, Streptozosin), antivirals (eg. as didanosine, Cidofir) caused and expired tetracycline. All these drugs are nephrotoxic. The acquired Fanconi syndrome can also with Never rentransplantation occur and in patients with multiple myeloma, amyloidosis and intoxication with heavy metals, other chemical substances or vitamin D deficiency. Pathophysiology Various disorders of the proximal tubule arise, including a deterioration of the absorption of glucose, phosphate, amino acids, bicarbonate, uric acid, water, potassium and sodium. There is a generalized aminoaciduria, with the increased Zysteinausscheidung, as opposed to being here at Zysteinurie without essential. The pathophysiological cause of this disorder is unknown, but may be of mitochondrial origin. The low Serumohosphatspiegel cause rickets, which is exacerbated because the conversion of vitamin D is reduced in its active form in the proximal tubule. Symptoms and complaints with hereditary Fanconi syndrome occur major clinical features-proximal tubular acidosis, hypophosphatemic rickets, hypokalemia, polyuria and polydipsia – on usually in childhood. In the nephrotic form with Zysteinose growth delays and failure to thrive are the rule. The retina is an irregular depigmentation. It forms an interstitial nephritis, leading to renal failure, which can still lead before adolescence to death. When acquired Fanconi syndrome adults have pathological laboratory findings similar to a tubular acidosis kidney (proximal type 2 see table: Some features of the various forms of renal tubular acidosis *), hypophosphatemia and hypokalemia. Furthermore, symptoms of bone disease (osteomalacia) or muscle weakness may occur. Diagnostic urine samples for glucose, amino acids and phosphates The diagnosis is based on proof of functional abnormalities of the kidney, in particular by detecting the glucosuria (with normal serum glucose), and aminoaciduria phosphaturia. In the Zysteinose to show up upon consideration of the cornea by the slit lamp, Zysteinkristalle. Therapy Sometimes sodium bicarbonate or potassium bicarbonate or potassium citrate Sometimes intake of potassium Apart from the – if possible – eliminating the kidney-damaging agent, there is no specific therapy. Acidosis can by the administration of tablets or liquid sodium bicarbonate or potassium or sodium citrate or potassium citrate, for example. B. Shohl solution (sodium citrate and citric acid; 1 ml is equivalent to 1 mmol of bicarbonate) is relieved 1 mEq / kg 2 or 3 times a day, or 5-15 ml after meals or at bedtime. Potassium deficiency needs to be replaced with potassium-salt. The hypophosphatemic rickets can be treated. Kidney transplantation has proven to be positive for kidney failure. Is the underlying disease but a Zysteinose, the progressive damage may continue in other organs and lead to death. Conclusion Various disorders affecting the proximal tubular reabsorption of glucose, phosphate, amino acids, bicarbonate, uric acid, water, potassium and sodium. The Fanconi syndrome is usually caused by a drug or occurs along with a different genetic disorder on. Persons with hereditary Fanconi syndrome proximal tubular acidosis, hypophosphatemic rickets, hypokalemia, polyuria and polydipsia occur -normally already in childhood. Urine testing for glucosuria (particularly with normal serum glucose) phosphaturia and aminoaciduria. The treatment is effected by the administration of combinations of potassium or sodium (according to need) with either bicarbonate or citrate, or sometimes just with an additional potassium salt.

Health Life Media Team

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