Cystinosis induced by / 中国当代儿科杂志

A boy, aged 1 year and 6 months, was found to have persistent positive urine glucose at the age of 4 months, with polydipsia, polyuria, and growth retardation. Laboratory examinations suggested that the boy had low specific weight urine, anemia, hypokalemia, hyponatremia, hypomagnesemia, metabolic acidosis, glycosuria, acidaminuria, increased fractional excretion of potassium, and decreased tubular reabsorption of phosphate. X-ray examinations of the head, thorax, and right hand showed changes of renal rickets. The slit-lamp examination showed a large number of cystine crystals in the cornea. The genetic testing showed a suspected pathogenic homozygous mutation of the

Urinary cystine calculi and detection of polymorphism in the SLC3A1 gene in Sudanese children

To investigate polymorphism in exon 8 of the SLC3A1 gene in children with urinary cystine calculi in Khartoum. A semi-quantitative chemical method was used to analyse 175 urinary calculi removed surgically from paediatric patients at Soba Teaching Hospital in Khartoum between October 2005 and May 2009. DNA was extracted with phenol chloroform isoamyl alcohol, and exon 8 of the SLC3A1 gene was amplified in a thermocycler and sequenced with an AB3130 genetic autoanalyser. Of the 175 stones, 10 were cystine calculi [5.7%]. The sex ratio of the patients was 2.3:1 [boys to girls], and the mean age at cystine stone onset was 31.1 +/- 28.2 months [range, 3-125 months]. Of the 10 patients, 8 had a positive family history of calculi formation, 4 had bilateral calculi, 3 had both renal and urinary bladder calculi, and 2 had obstructive acute renal failure. All patients required more than one surgical operation. One patient had a missense mutation M467K in exon 8 of the SLC3A1 gene. The prevalence of cystine calculi among urinary calculi in Sudanese children was 5.7%. A family history was found in 80% of children. A mutation [M467T] was identified at exon 8 of the SLC3A1 gene in one child

Síndrome de McLeod: compromiso multisistémico asociado a neuroacantocitosis ligada al cromosoma X, en una familia chilena / McLeod syndrome: Multisystem involvement associated with neuroacanthocytosis linked to X chromosome. Report of two related cases

Neurological abnormalities associated with spiculated, "acanthocytic" red cells in blood have been described as neuroacanthocytosis. This is a heterogeneous group of conditions that can be clearly subdivided on the basis of recent genetic findings. The McLeod Syndrome, one of the core neuroacanthocytosis syndromes, is a rare X-linked disorder caused by mutations of the XK gene, an X-chromosomal gene of unknown function characterized by haemopoietic abnormalities and late-onset neurological and muscular defects. We report two Chilean brothers with the McLeod phenotype who showed important psychiatric features. The diagnosis may be elusive if the presence of acanthocytosis is not properly studied. We describe a method which allowed the diagnosis that unmasked acanthocytosis. Otherwise the condition could have remained undiagnosed as it had been for decades in this family. This syndrome must be considered when assessing a familial movement disorder, specially affecting males with relevant psychiatric features. A reliable test for acanthocytosis assessment is available.