[MIM 219 750, 219 800, 219 900]

(Lignac-Fanconi syndrome)

Rare. Autosomal recessive transmission. Metabolic disease due to a mutation of the CTNS gene (17p13) that codes for cystinosine, a membrane protein that transports the cystine from lysosomes.The most common mutation is a deletion that includes the CARKL gene that codes for sedoheptulokinase. This causes the accumulation of cystine that forms crystals in tissue lysosomes (cornea, conjunctiva, bone marrow, kidneys, liver etc). 

There are three forms:

-         infantile nephropathic cystinosis [MIM 219 800] : onset before the age of 1 year: growth retardation, polyuria with dehydration and metabolic acidosis (Fanconi syndrome: urinary loss of glucose, K +, bicarbonate and phosphate), chronic kidney disease, photophobia, osteopenia. Later: diabetes mellitus, hypothyroidism, puberty retardation, sometimes hepatomegaly with hepatic fibrosis (sometimes portal hypertension). Some cases of decrease in production of sweat and heat intolerance have been reported: risk of iatrogenic hyperthermia. Vacuolar type subclinical myopathy (25% of cases) by cystine deposits and renal loss of carnitine, causing swallowing problems. The risk of type I Chiari malformation (see this term) is 12 times higher than in the normal population: it is necessary to plan an MRI in case of occurrence of neurological symptoms (headache, ataxia, incontinence).

-         juvenile or late cystinosis [MIM 219 900]: early ocular manifestations. Renal disorders appear later and are less severe

-         adult or ocular cystinosis [MIM 219 750]: only  ocular problems are present.

Infantile form treatment: cysteamine p.os  (1.3 g/m2/day in 4 doses, causing digestive disorders and bad breath) and eye drops, indomethacin 1-3 mg/kg/d in 2 or 3 doses to decrease the polyuria, except in case of dehydration or if renal function gets worse; gastrostomy to insure adequate caloric intake; otherwise, end stage renal disease around 10 years of age (indication of kidney transplant).

Anesthetic implications: 

renal failure. Check hemoglobin, platelets and coagulation. Eye protection. Swallowing problems caused by subclinical myopathy.  Check thyroid and pancreatic functions. Avoid nephrotoxic agents. Monitor the volemia (urinary losses ++ before the kidney transplant). Ocular protection: apply cysteamine collyre 6 to 10 times a day. Cysteamine treatment should be continued after kidney transplantion.

References : 

• Tobias JD. 
  Anaesthetic implications of cystinosis. 
  Can J Anaesth 1993; 40: 518-20.
• Ray TL, Tobias JD. 
  Perioperative care of the patient with nephropatic cystinosis. 
  Pediatr Anesth 2004; 14: 878-85.
• Purday JP, Montgomery CJ, Blackstock D. 
  Intraoperative hyperthermia in a paediatric patient with cystinosis. 
  Paediatr Anaesth 1995; 5:389-92.
• Rao KI, Hesselink J, Trauner DA. 
  Chiari I malformation in nephropathic cystinosis. 
  J Pediatr 2015; 167: 1126-9.
• Emma F, Nesterova G, Langman C, Labbé A et al.
  Nephropatic cystinosis : an international consensus document.
  Nephrology Dialysis Transplantation 2014, 29 S4 iv87-94

Updated: June 2018