Cystinuria (MIM 220100) is a common recessive disorder of renal reabsorption of cystine and dibasic amino acids. Mutations in SLC3A1, encoding rBAT, cause cystinuria type I (ref. 1), but not other types of cystinuria (ref. 2). A gene whose mutation causes non-type I cystinuria has been mapped by linkage analysis to 19q12-13.1 (Refs 3,4). We have identified a new transcript, encoding a protein (bo, +AT, for bo,+ amino acid transporter) belonging to a family of light subunits of amino acid transporters, expressed in kidney, liver, small intestine and placenta, and localized its gene (SLC7A9) to the non-type I cystinuria 19q locus. Co-transfection of bo,+AT and rBAT brings the latter to the plasma membrane, and results in the uptake of L-arginine in COS cells. We have found SLC7A9 mutations in Libyan-Jews, North American, Italian and Spanish non-type I cystinuria patients. The Libyan Jewish patients are homozygous for a founder missense mutation (V170M) that abolishes b o,+AT amino-acid uptake activity when co-transfected with rBAT in COS cells. We identified four missense mutations (G105R, A182T, G195R and G295R) and two frameshift (520insT and 596delTG) mutations in other patients. Our data establish that mutations in SLC7A9 cause non-type I cystinuria, and suggest that bo,+AT is the light subunit of rBAT.

The cutaneous side-effects of levamisole include non-specific and lichenoid eruptions, fixed drug eruption and, very rarely, cutaneous vasculitis. We describe a distinctive clinical and histological vasculopathy with immunological abnormalities in children with paediatric nephrotic syndrome receiving long-term levamisole treatment. Four boys and one girl were identified. Their average age was 10 years. Levamisole had been used for an average of 24 months. Purpura of the ears was the most common finding corresponding histologically to a vasculopathic reaction pattern ranging from a leucocytoclastic and thrombotic vasculitis to a vascular occlusive disease without true vasculitis but with associated antinuclear, antiphospholipid and anticytoplasmic antibodies. The eruption resolved in all patients 2-3 weeks after the discontinuation of levamisole, but serum autoantibodies persisted for 2-14 months.

Three patients are described who presented with a glomerulopathy suggestive of lupus nephritis in the absence of other clinical and biological evidence of systemic lupus erythematosus (SLE). Renal biopsies showed a "full-house" immunofluorescence pattern and two patients also had cytoplasmic tubuloreticular inclusions by electron microscopy. All these patients developed antinuclear and anti-double-stranded DNA antibodies 3, 5, and 10 years after their original presentation. Subsequently, 1 patient also developed clinical symptoms of lupus. Reviewing all renal biopsies performed in our department, we found 14 additional patients who presented with a "full-house" immunofluorescence glomerulonephritis in the absence of other features of SLE. After a mean follow-up of 5.8 years, these patients have not developed serological or clinical evidence of SLE. We conclude that a "full-house" glomerulopathy in children may be the first symptom of SLE, especially when cytoplasmic tubuloreticular inclusions are detected. The appearance of other clinical and biological symptoms may be delayed by several years.

Abstract. This study reports the geographical incidence of successful pregnancies in women on renal replacement therapy (RRT) and related information on gestation and clinical status of newborns. The impact of successful pregnancy on graft function was assessed by means of a retrospective case-control study.Since 1977 special questionnaires have been sent to each dialysis and transplant centre which reported babies born to mothers on RRT on the yearly centre questionnaire. After 10 years of data collection, a total of 490 pregnancies and 500 babies were available for analysis. A percentage of 88.4 of the babies were born to mothers with a functioning graft, 11.2% to mothers on chronic haemodialysis, and the remaining 0.4% to mothers on CAPD.Almost 50% of all successful pregnancies wereCorrespondence and ojfprint requem to: Professor F. P. Brunner, EDTA Registry, St Thomas' Hospital, London SE1 7EH, UK.reported from the UK. The number of successful pregnancies increased steadily and in parallel with the increasing number of females of childbearing age with a functioning renal transplant. The majority of mothers delivered at age 24-32. For transplanted mothers delivery occurred most commonly during the 3rd and 4th year after successful transplantation. In approximately 85% of cases the duration of pregnancy was shorter than the lower 10th percentile of normal. Birthweight was reduced in accordance with gestational age. Newborn mortality was 1.8%.Fifty-three mothers with a successful pregnancy in 1984 1987 were computer matched with controls according to a number of criteria. The serum creatinine concentration recorded in coded form at the end of each year on the individual EDTA patient questionnaire was used to assess changes in graft function. In 94% of these cases the serum creatinine, recorded 0 11 months before delivery, did not exceed 160 umol/1. Graft function deteriorated in 18% of 280 G. Rizzoni el ai mothers as compared to 24% of controls. Twentyfour to 36 months postpartum, changes of serum creatinine were similar in test cases and controls, suggesting that a successful pregnancy does not adversely affect graft function if this was stable and well preserved at the time of conception.

The educational status, employment rate and social situation were studied in 617 patients between 21 and 35 years of age who started renal replacement therapy (RRT) as children. The data were derived from a special questionnaire concerning disability and rehabilitation sent to dialysis and transplant centres reporting to the EDTA Registry. Fifty-six percent of patients completed secondary school and one in three went on to vocational training. Eleven percent of patients attended university, and 16% were reported to have gone to a special school for the handicapped. Up to one-third of patients who attended different school types failed to complete their education. There were notable geographical differences in schooling and in employment. Fifty-six percent of all patients were employed. Lack of schooling was considered to be a major reason for unemployment. Sixty-one percent of patients with disabilities and 34% without disabilities were receiving invalidity payments. The place of residence of these patients aged 21-35 was usually the parental home. Compared to the general population of similar age, only a few patients were married (13.5% of the total study group) and 8% had children. In summary, the present report shows that the major factors influencing rehabilitation on RRT are the presence of disabilities, the method of treatment, geographical factors, duration of RRT, and the underlying primary renal disease.