1/52. Does carbamazepine-epoxide conjugate with glutathione? On an existing but almost forgotten possibility. The anticonvulsant carbamazepine is widely used to treat affective disorders and behavioural disorders in non-epileptic children. We report an elevated plasma level of carbamazepine-10,11-epoxide in a cystinuric child after daily medication with 300 mg carbamazepine while the serum level of carbamazepine was in the therapeutic range. The concentrations of carbamazepine and its epoxide derivative were determined by HPLC. The formation of a glutathione conjugate of carbamazepine-10,11-epoxide is raised as a hypothesis. ( info) |
| An 18-year-old man had noticed increasing difficulty in walking for 4 years. Examination disclosed spastic paraparesis and posterior column signs suggestive of subacute combined degeneration of the spinal cord. urinalysis, urinary thin-layer chromatography, and intestinal biopsy disclosed typical cystinuria. Pernicious anemia and other known enteropathies were excluded. Although this could be a chance association of cystinuria and subacute combined degeneration, one other paper has reported a cystinuria patient with similar neurologic findings. A chance association between cystinuria and nonpernicious anemia subacute combined degeneration of the spinal cord should occur only once in 120 million individuals. Thus, identification of only a few more cases would suggest a pathogenetic link between the two disorders. These observations emphasize the need to search for neurologic signs in patients with cystinuria and to screen the urine of patients with spinal cord signs of obscure origin for cystinuria. ( info) |
3/52. cystinuria: cause of recurrent renal stones in a 4-year-old girl. This paper presents the case report of a 4-year and 6-month old girl with cystinuria. She clinically presented with recurrent radiopaque renal stones since the age of 3 years. She received 2 subsequent operations of pyelolithotomy combined with ureterolithotomy at the age of 3 years 6 months, and pyelolithotomy alone at the age of 5 years. She was initially diagnosed as having cystinuria by the presence of hexagonal plate crystals in her acidified urine and positive for the urinary cyanide-nitroprusside test. The diagnosis was confirmed by urinary amino acid analysis using quantitative ion-exchange chromatography which revealed increased amounts of cystine and dibasic amino acids of lysine and ornithine. In spite of maintaining a high fluid intake and alkalinizing urine by giving potassium citrate after the first operation, recurrent renal stones were found. Therefore, after the second operation, D-penicillamine was additionally introduced. During the 18-month follow-up, although there were recurrent renal stones, the rate of stone formation was slower. To the authors' knowledge, this is the first case report in thailand. ( info) |
4/52. cystine urinary lithiasis in thailand: a report of five cases. cystine urinary stone is an autosomal recessive hereditary disease, frequently recurring and resisting fragmentation by Shockwave lithotripsy. As cases have never been reported before in thailand, five cases of renal cystine stones at Ramathibodi Hospital were reported. Two were in the same family. In all cases the stones were removed by open surgery or percutaneous nephrolithotomy. Postoperatively, all the stones were analyzed by infrared spectroscopy for cystine. In two cases, cystine stones were also identified by scanning electron microscopy. urine was analyzed for cystine by sodium cyanide-nitroprusside test, its concentration by spectrophotometry and cystine crystals were identified by the new crystal induction technique under light microscopy. By high-performance liquid chromatography (HPLC) test, urinary dibasic amino acids (ornithine, lysine, arginine) in these cases were also found to be significantly elevated. Clinical findings, diagnosis, treatment and prevention of cystine stones are reviewed. ( info) |
| An unusual association of bardet-biedl syndrome with cystinuria was described in one patient. A 21-year-old male was admitted to hospital because of renal failure, severe deterioration of visual acuity, polydactyly, brachydactyly, and mental retardation. Laboratory investigations revealed a serum creatinine of 292 mumol/L (3.3 mg/dL) and a GFR of 25 mL/min per 1.73 m2. Quantitative ion exchange chromatography demonstrated an increased urinary excretion rate of cystine, lysine, arginine, and ornithine. The ophthalmologic examination showed a severe atypical retinal dystrophy. visual acuity was severely deteriorated and the patient could only count the examining physician's fingers. The patient had been previously evaluated at the age of 7 years for polyuria, polydipsia, and growth failure. His workup at that time demonstrated nephrogenic diabetes insipidus, normal GFR, and a urinary amino acid pattern consistent with the cystinuric phenotype. There was mental retardation notwithstanding the normal ophthalmologic examination. Intravenous pyelography showed calyceal clubbing, calyceal cysts, and lobulated renal outlines of the fetal type. The patient was evaluated again at the age of 13 years for deterioration of visual acuity and the ophthalmologic examination showed an atypical retinal dystrophy, with sparse pigmentation, central and peripheral atrophy, attenuated vessels, and marked optic disk pallor. To our knowledge the association of bardet-biedl syndrome with cystinuria has never been reported. It is unlikely that cystinuria may have contributed to the kidney damage. The possibility that mental retardation has been induced or aggravated by cystinuria cannot be excluded. ( info) |
6/52. skin and bone lesions (dermato-osteolathyrism), possible side effects of D-penicillamine treatment, in a boy with cystinuria. A 2 1/4 year-old boy was treated for cystinuria and urolithiasis with high fluid intake, sodium bicarbonate, and D-penicillamine, over a period of 5 3/4 years, unauthorized interruptions and prescribed pauses included. Therapy was partially sucessful but regrowth of calculi coincided with interruptions of D-penicillamine administration and also with the institution of a low-dose D-penicillamine regime. Flat feet, scoliosis, pectus carinatum, hypermobility of joints, molluscoid pseudotumors and atrophic scars were alarming side effects of D-penicillamine. However, the possibility was not excluded that a forme fruste of an ehlers-danlos syndrome preexisted in this boy and was effected by D-penicillamine. Only the molluscoid pseudotumors regressed when D-penicillamine was reduced or omitted temporarily. Osteolathyrism caused by D-penicillamine has hitherto not been reported in man. ( info) |
7/52. Peeling skin syndrome with aminoaciduria. A 12-year-old child presented with asymptomatic, noninflammatory, generalized peeling of the skin since early childhood. He was diagnosed as having type A continual peeling skin syndrome. Associated increased excretion of cystine and histidine in the urine has hitherto not been reported. ( info) |
8/52. Giant cystine stone in an infant bladder with no evidence of cystinuria--valence of possible pathomechanisms. Bladder calculi account for approximately 5% of all urinary calculi. Children are at high risk in endemic areas whereas otherwise the entity is rare. diet, voiding dysfunction and uncorrected anatomical abnormalities predispose to bladder stone formation. We report the case of a 2-year-old girl with a giant cystine bladder stone without relevant cystinuria and a small left kidney. Suprapubic cystolithotomy was performed for stone removal. We discuss possible associations of cystine calculi with unilateral genitourinary pathologies in the absence of persistent excess cystinuria. ( info) |
9/52. Balanced translocation (14;20) in a mentally handicapped child with cystinuria. A mentally handicapped 3 year old child with cystinuria is presented. Routine chromosomal analysis showed an apparently balanced de novo translocation in the child with breakpoints 14q22 and 20p13. family studies suggested that the child is a type I/type II compound heterozygote for cystinuria. This translocation may indicate a possible locus for the gene for cystinuria. ( info) |
| We report a case of cystinuria and glutamic aciduria, presenting with progressive cerebellar manifestations. She had cerebellar type dysarthria and limb ataxia. head MRI revealed cerebellar atrophy. Urinary amino acid analysis showed excessive excretion of glutamate and the dibasic amino acids (cystine, arginine, lysine, and ornithine). cystine and glutamic acid are thought to be transported in a common membrane transport system. Reduction of glutamic acid and cystine in the cerebrospinal fluid was revealed. A relationship between cystinuria and cerebellar manifestation was discussed. ( info) |