Crome syndrome
Overview
Crome syndrome: A very rare disorder characterized by various abnormalities including mental retardation, epilepsy and eye and kidney problems.
Symptoms
The list of signs and symptoms mentioned in various sources for Crome syndrome includes the 7 symptoms listed below: * Epileptic attacks * Mental retardation * Vision impairment * Congenital cataracts * Small stature * Encephalopathy * Renal tubular necrosis
Causes
ATN results from ischemic or nephrotoxic injury, most commonly in debilitated patients, such as the critically ill and those who have undergone extensive surgery. With ischemic injury, disruption of blood flow to the kidneys may result from circulatory collapse, severe hypotension, trauma, hemorrhage, dehydration, cardiogenic or septic shock, surgery, anesthetics, or reactions to transfusions. Ischemic ATN can damage the epithelial and basement membranes and can cause lesions in the renal interstitium. With nephrotoxic injury, damage may follow ingestion of certain chemical agents or result from a hypersensitive reaction of the kidneys. Because nephrotoxic ATN doesn’t damage the basement membrane of the nephron, it’s potentially reversible. ATN may result from: * diseased tubular epithelium that allows leakage of glomerular filtrate across the membranes and reabsorption of filtrate into the blood * obstruction of urine flow by the collection of damaged cells, casts, red blood cells (RBCs), and other cellular debris within the tubular walls * ischemic injury to glomerular epithelial cells, resulting in cellular collapse and decreased glomerular capillary permeability * ischemic injury to vascular endothelium, eventually resulting in cellular swelling and obstruction.
Diagnosis
Assessment of the renal and urologic systems begins with an accurate patient history and requires a thorough physical examination and certain laboratory data and test results from invasive and noninvasive procedures. When obtaining a patient history, ask about symptoms that pertain specifically to the pathology of the renal and urologic systems, such as frequency or urgency, and about the presence of any systemic diseases that can produce renal or urologic dysfunction, such as hypertension, diabetes mellitus, or bladder infections. Family history may also suggest a genetic predisposition to certain renal diseases, such as glomerulonephritis or polycystic kidney disease. Also, ask what medications the patient has been taking; abuse of analgesics or antibiotics may cause nephrotoxicity.
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.