Toni-Debre-Fanconi syndrome
Overview
Toni-Debré-Fanconi syndrome: Another name for Toni-Fanconi syndrome type 1 (or close medical condition association).
Symptoms
* Failure to thrive * Vomiting * Unexplained fever * Excessive urination * Dehydration * Rickets * Osteomalacia * Swan-neck kidney deformity * Kidney lesions * Pyelonephritis * Kidney fibrosis * Kidney vacuolization * Liver cirrhosis * Chronic acidosis * Hypokalemia * Excess sugar in the urine * Excess phosphates in urine * Excess amino acids in urine
Treatment
Treatment of intractable renal or urinary system dysfunction may require urinary diversion, dialysis, or kidney transplantation. Urinary diversion is the surgical creation of an outlet for excreting urine. The types of urinary diversion include ileal conduit, cutaneous ureterostomy, ureterosigmoidostomy, and creation of a rectal bladder. In dialysis, a semipermeable membrane, osmosis, and diffusion imitate normal renal function by eliminating excess body fluids, maintaining or restoring plasma electrolyte and acid-base balance, and removing waste products and dialyzable poisons from the blood. Dialysis is most often used for patients with acute or chronic renal failure. The two most common types of dialysis are peritoneal dialysis and hemodialysis. In peritoneal dialysis, a dialysate solution is infused into the peritoneal cavity. Substances then diffuse through the peritoneal membrane. Waste products remain in the dialysate solution and are removed. Hemodialysis separates solutes by differential diffusion through a cellophane membrane placed between the blood and the dialysate solution, in an external receptacle. Because the blood must actually pass out of the body into a dialysis machine, hemodialysis requires an access route to the blood supply by an arteriovenous fistula or cannula or by a bovine or synthetic graft. When caring for a patient with such an access route, monitor the patency of the access route, prevent infection, and promote safety and adequate function. After dialysis, watch for such complications as headache, vomiting, agitation, and twitching. Patients with end-stage renal disease may benefit from kidney transplantation, despite its limitations: a shortage of donor kidneys, the chance of transplant rejection, and the need for lifelong medications and follow-up care. After kidney transplantation, maintain fluid and electrolyte balance, prevent infection, monitor for rejection, and promote psychological well-being.