Identification of novel cystinuria mutations in pediatric patients.

Objective: Cystinuria is a common inherited disorder of renal reabsorption of cystine and the dibasic amino acids. So far, mutations in two genes (SLC3A1 and SLC7A9) have been identified in cystinuria patients. Molecular searches for cystinuria mutations show that their distribution depends on the ethnic origin of the patients, but have not allowed the detection of 100% of variants.

[Clinical picture and molecular analysis in a familial case of Nail-Patella Syndrome--identification of a new mutation in LMX1B gene].

The Nail-Patella Syndrome (NPS) (OMIM: 161200) is an autosomal dominant disorder characterized by skeletal malformations, such as: patellar aplasia/ hypoplasia, iliac horns on X-ray as well as nail dysplasia, renal and ocular abnormalities. Mutations in the gene encoding transcription factor LMX1B, mapped on the long arm of chromosome 9 (9q34), are responsible for the clinical phenotype of NPS. A familial case (in the mother and her son) of Nail-Patella Syndrome is presented here.

[Urinary trace elements excretion in patients with cystine calculosis].

Unlabelled: Not all cystinuric patients develop urinary calculi. There is the need to identify modulating factors. In recent years the role of trace elements in the mechanism of stone formation has received a steadily increasing attention.

[Usefulness of Uro-Vaxom in complex treatment of recurrent urinary tract infections in girls].

Uro-Vaxom was used in the treatment of recurrent urinary tract infections in 35 girls. Most of them (34/35) tolerated the drug very well, no side effect were observed. We stopped administration of the Uro-Vaxom in one girl, during the first month of treatment because of vomiting.

[Defects of the low urinary tract as a cause of recurrent urinary tract infection in girls].

462 girls aged 1 month--15 years with recurrent urinary tract infection were diagnosed in the Outpatient Clinic of Mother and Child Institute during 1985-1992 and 1999-2000 years period. The most common cause of recurrent urinary tract infection was an isolated construction of external urethral ostium--59.9% (187/312) then vesico-ureteral reflux coexisting with external urethral ostium--41.

[Evaluation of treatment and preventive care for recurrent urolithiasis in children].

Among 425 children with urolithiasis treated in the Paediatric Clinical Department of the National Research Institute of Mother and Child in Warsaw between 1976-1997, 50 of them i.e. 11.

[Importance of dietary sodium in the hypercalciuria syndrome and nephrolithiasis].

The studies involved 20 children with idiopathic hypercalciuria (IH). An influence of urinary sodium excretion, and reflection of its intake, on urinary calcium excretion has been assessed. Children who were normocalciuric had significancy lower values of urine sodium excretion when compared with those with persisting hypercalciuria.

[Clinical evaluation of Uro-Vaxom in treatment of recurrent urinary tract infections in girls].

Uro-Vaxom was used in the treatment of recurrent urinary tract infections in 28 girls. Most of them (27/28) tolerated the drug very well, no side effects were observed. We stopped administration of the Uro-Vaxom in one girl during the first month of treatment because of vomiting.

[The concentration of uric acid in twenty-four hour urine collections of health children in various age groups].

The concentration of uric acid in a 24-hour urine of 94 healthy children was determined. The concentrations of uric acid and numbers of children of various groups of age are presented in table I and II.

[Diurnal urinary excretion of oxalic acid in healthy children of different age groups].

The oxalic acid concentration in 24 hour urine of 94 healthy children, aged 1 to 18 years, were determined. The colorimetric method of Slodgkinson and Williams in modification of Rozentall was used to determine the oxalic acid concentration. Obtained results were analysed in following age groups: 1-3 years, 3-6 years, 9-14 years and 14-18 years.

[Urinary tract infections and urolithiasis].

100 cases of urolithiasis in children treated in Pediatric Clinic of National Research Institute of Mother and Child in the period of 1976-1979 were analized . In 93 children the cause of urolithiasis was established. The most of them (31%) are cases of infection induced urinary stones.

[Metabolic etiology of urinary calculi in children].

The analysed material includes 100 children with urolithiasis treated in the Pediatric Clinic of the National Research Institute of Mother and Child in Warsaw between 1976 and 1978. Patients' age was from 3 months to 18 years. The analysed group included 51 boys and 49 girls.

[Urinary calculi in children].

Urolithiasis in children is a very important problem from the theoretical as well as from practical point of view. Better knowledge of its metabolic basis may allow to move the central treatment from surgical to prophylactic methods. The study presents modern view points on mechanisms for concrements sedimentation and actual data on metabolic disturbances in calcium, oxalates, purines, xanthines and cystine and their relations to urolithiasis and urinary tract infection.