Use of electronic health records by child primary healthcare providers in Europe.

BACKGROUND: There is limited data on the use and functionality level of electronic health records (EHRs) supporting primary child health care in Europe. Our objective was to determine European primary child healthcare providers' use of EHRs, and functionality level of the systems used. METHODS: European primary care paediatricians, paediatric subspecialists and family doctors were invited by European Academy of Paediatrics Research in Ambulatory Setting Network (EAPRASnet) country coordinators to complete a web-based survey on the use of EHRs and the systems' functionalities. Binomial logistic analysis has been used to evaluate the effect of specialty and type of practice on the use of EHRs. RESULTS: The survey was completed by 679 child primary healthcare providers (response rate 53%). Five hundred and fifty four responses coming from 10 predominant countries were taken for further analysis. EHR use by respondents varied widely between countries, all electronic type use ranging between 7% and 97%. There was no significant difference in EHR use between group practice and solo practitioners, or between family doctors and primary care paediatricians. History and physical examination can be properly recorded by respondents in most countries. However, growth chart plotting capacity in some countries ranges between 22% and 50%. Vaccination recording capacity varies between 50% and 100%, and data exchange capacity with immunization databases is mostly limited, ranging between 0% and 54%. CONCLUSIONS: There is marked heterogeneity in the use and functionalities of EHRs used among child primary child healthcare providers in Europe. More importantly, lack of critical paediatric supportive functionalities like growth tracking and vaccination status has been documented in some countries. There is a need to explore the reasons for these findings, and to develop a cross European paediatric EHR standards.

De novo therapy with everolimus, low-dose ciclosporine A, basiliximab and steroid elimination in pediatric kidney transplantation.

The number of acute rejections and infections after pediatric kidney transplantation (KTX) could not be reduced in the last years. To reduce these events, we investigated a new immunosuppressive protocol in a prospective trial. After KTX, 20 children (median age 12 years, range 1-17) were initially treated with Basiliximab, ciclosporine A (CsA) (trough-level = C0 200-250 ng/mL) and prednisolone. After 2 weeks, CsA dose was reduced to 50% (C0 75-100 ng/mL, after 6 months: 50-75 ng/mL) and everolimus (1.6 mg/m²) /day) was started (C0 3-6 ng/mL). Six months after KTX prednisolone was set to alternate dose and stopped 3 months later. All 20 protocol biopsies 6 months after KTX showed no acute rejection or borderline findings. Indication biopsies resulted in no acute rejections and two borderline findings. Mean glomerular filtration rate (GFR) 1 year after KTX was 71 ± 25 mL/min/1.73 m². Without cytomegalovirus (CMV)-prophylaxis, only two primary CMV infections were seen despite a donor/recipient-CMV-constellation pos./neg. in 10/20 children. In pediatric KTX, de novo immunosuppression with low-dose CsA, everolimus and steroid withdrawal after 9 months led to promising results according to numbers of acute rejections and infections. Further follow up is needed. Future larger trials will have to confirm our findings.

Protocol biopsy-driven interventions after pediatric renal transplantation.

The therapeutic value of protocol biopsies (PBs) in renal transplant recipients remains unclear. We performed protocol biopsies in 57 children six months after transplantation. We increased the CNI dose in patients with borderline findings. In cases of Banff grade Ia, six prednisolone IV-pulses were given and the CNI dose was increased. CNI toxicity and polyomavirus nephropathy led to a reduction in the CNI dose. GFR was compared with a control group of 51 children with no PBs transplanted in the same period. Forty-two percent of PBs had no pathological changes, 24% IF/TA. Borderline findings were detected in 11%, Banff grade Ia in 15% (CNI), toxicity in 8%, and one case showed polyomavirus nephropathy. GFR after 1.5 and 2.5 yr was similar in both groups. GFR 3.5 yr after transplantation was significantly higher in the intervention group (57 ± 17 vs. 46 ± 20). Patients treated with low-dose CNI and everolimus had a significantly lower number of pathological findings in PBs. The performance of protocol biopsies followed by a standardized treatment algorithm led to better graft function 3.5 yr after transplantation. Prospective randomized studies to confirm our findings are needed.

Growth in children after kidney transplantation with living related donor graft or cadaveric graft.

The extent to which growth after renal transplantation differs between children with a living related donor graft (LRD) and those with a cadaveric donor graft (CAD) is unclear. We retrospectively studied growth in the 5 years after transplantation in 30 boys who received LRD and 21 who received CAD. Height was similar in both groups after transplantation but was greater in LRD than in CAD recipients during follow-up. LRD recipients were taller at all ages, and had greater growth velocity in infancy and during puberty. Glomerular filtration rate (GFR) was higher immediately after transplantation in LRD than in CAD recipients, but did not differ between the groups during follow-up. GFR and other factors did not affect height 5 years after transplantation. These findings support use of LRD as the preferred option in children.

Living related kidney donation as an advantage for growth of children independent of glomerular filtration rate.

Seventy-two pediatric kidney recipients of living related donors (LRD) and 145 of cadaveric donors (CAD) were analyzed for height standard deviation scores (Ht-SDS) and glomerular filtration rates (GFR) directly after transplantation and over the following 5 years. GFR was significantly higher immediately after transplantation in LRD compared with CAD recipients; however, GFR was not different during the 5-year follow-up period. Although Ht-SDS was comparable at the time of transplantation in both groups, it was significantly higher among LRD recipients over the next 5 years. Multivariate and covariate analyses showed that Ht-SDS after 5 years was mainly influenced only by CAD vs LRD and not by GFR or other factors, namely, donor age, rejections, time of dialysis, preemptive transplantation, age at transplantation, or immunosuppression. Thus, children receiving grafts from LRD showed a better catch-up growth independent of the GFR than those after CAD transplantation. We concluded that the period of donor death and prolonged cold ischemia in CAD grafts may lead to changes in gene expression of cytokines and other mediator molecules that affect bone metabolism. Better growth seems to be an additional factor supporting the policy of LRD kidney transplantation as the best option in children.

Effect of a silver device in preventing catheter-related infections in peritoneal dialysis patients: silver ring prophylaxis at the catheter exit study.

Catheter-related infections remain a significant cause of method failure in chronic peritoneal dialysis (PD) therapy. Given the increasing antibiotic resistance, such nonpharmacological strategies as local silver devices attract more interest. To establish whether a silver ring device (designed by Grosse-Siestrup in 1992) mounted onto the PD catheter and placed at the exit site at skin level is effective in preventing exit-site and other catheter-related infections, a prospective 12-month, multicenter, controlled study stratified by diabetes status was conducted. The study subjects were assessed by an extensive structured inventory, including a broad spectrum of control variables, such as age, body mass index (BMI), Staphylococcus aureus carrier status, catheter features, mode and quality of PD therapy, comorbidity, and psychosocial rehabilitation. Ten experienced German outpatient dialysis centers (seven adult, three pediatric) participated in the trial. All eligible patients (n=195) from the study area without catheter-related infections during the ascertainment period were included (incidental subjects undergoing PD therapy for at least 3 months). The main outcome measures were the occurrence of first exit-site infections (primary study end point), sinus tract/tunnel infection, and peritonitis. Ninety-seven patients were assigned to the silver ring and 98 patients to the control group. Baseline characteristics of age, sex, proportion of pediatric and incidental patients, S aureus carrier status, and other variables were similar in both groups. The incidence of infections in the silver ring group versus the control group was as follows: 23 of 97 versus 16 of 98 patients had exit-site infections, 12 of 97 versus 12 of 98 patients had sinus tract/tunnel infections, 16 of 97 versus 18 of 98 patients had peritonitis, respectively. Kaplan-Meier analysis for the probability of an infection-free interval showed no statistical difference (log-rank test) between the two groups. Displacement of the silver ring contributed to study termination in 6% of the study group patients, including two patients with catheter loss. Univariate analysis and multiple logistic regression identified younger age (<50 years), low serum albumin level (<35 g/L), number of previously placed PD catheters, short cuff-exit distance (<2 cm), and S aureus nasal carriage as risk factors for the development of exit-site infections. In conclusion, our study does not show any benefit of the silver ring in preventing catheter-related infections in PD patients. Thus, prevention of infection-related method failure in PD still has to rely on conventional antibiotic treatment strategies and less so on alternative methods.

Daily urinary protein loss in Schistosoma haematobium infection.

Proteinuria was studied in 128 children aged 6 to 18 years with Schistosoma haematobium infection in the People's Republic of Congo. Urinary protein concentration in spontaneously voided midday urine of patients with greater than 100 ova/10 ml was significantly higher than in 24-hr urine specimens. Median daily urinary protein loss in patients with moderate intensity of infection (100-350 ova/10 ml) was 300 mg and 584 mg/1.73 m2 body surface in heavily infected patients (greater than 350 ova/10 ml). A significant correlation existed between egg excretion at noon and protein concentration in spontaneous urine samples as well as daily urinary protein loss (r = 0.76 and r = 0.68, respectively). Heavily infected patients had a daily protein loss of up to 3.3 g/1.73 m2, total serum protein and albumin concentration, however, were within normal limits. This may indicate adaptive mechanisms in patients with urinary schistosomiasis and high proteinuria which maintain a balanced serum protein concentration.

Sonomorphological abnormalities in Sudanese children with Schistosoma mansoni infection: a proposed staging-system for field diagnosis of periportal fibrosis.

For the purpose of staging sonographical abnormalities induced by Schistosoma mansoni infection in childhood, 536 patients aged 6-15 years underwent extensive sonographical examination. Specific findings of periportal fibrosis were classified in 3 grades and occurred in study patients but not in controls (n = 60). Grade I consisted of echogenic bands usually with a diameter greater than 4 mm that were best visible in the area of the portal vein bifurcation and gallbladder neck. Frequently a continuous U-shaped echogenic structure extended from the left portal branch to the gallbladder bed. Grade II was characterized by echogenic bands usually greater than 10 mm in diameter around the central part and major branches of the portal vein. In addition to features common to grade II, grade III included streak-like fibrous bands that were not confined to portal vein lumina but extended into the periphery of the liver. Sonographical abnormalities encountered in children with S. mansoni infection differed significantly from those in adults.

Ultrasonographical investigation of periportal fibrosis in children with Schistosoma mansoni infection: reversibility of morbidity twenty-three months after treatment with praziquantel.

In February 1987, 322 Sudanese school children were diagnosed for Schistosoma mansoni infection and treated randomly with praziquantel (either 20 mg/kg or 40 mg/kg body weight). A followup of these subjects was carried out in January 1989. This treatment resulted in a substantial reduction of egg output. Patients underwent complete abdominal ultrasonography and periportal fibrosis of the liver was graded into three degrees of severity. The proportion of patients with periportal fibrosis decreased from 36.6% in February 1987 to 21.7% in January 1989. At the time of followup, higher grades of periportal fibrosis (grades II and III) were encountered in only 4.3% and 0.3% of these patients, respectively, compared with 21.1% and 5.9%, respectively, before therapy. This was paralleled by a significant decrease in hepatomegaly from 10.9% to 7% of the patients. In contrast, the rate of splenomegaly showed a slight increase during the period of observation. The different dosage regimens of praziquantel did not result in a significantly different reversibility of periportal fibrosis or a decrease in egg excretion. The reversibility of specific liver lesions 23 months after antischistosomal therapy with praziquantel was substantial. The improvement was greater at 23 months than that obtained seven months after treatment.

Ultrasonography as a diagnostic aid for a district hospital in the tropics.

To improve diagnostic capabilities, an ultrasound unit was installed at a major hospital in Wad Medani, Sudan. During the implementation period (October 1986 to March 1987) of ultrasound service, 863 patients were examined cooperatively by Sudanese and German physicians. The service covered internal medicine (47.5%), obstetrics and gynecology (31.6%), surgery (12.5%), and pediatrics (8.4%). Pathologic findings were seen in 75% of the patients. In obstetrics, the rate of pathologic findings was 40%. Five hundred eighty-three pathologic findings were detected in organ systems that constituted the primary indication for ultrasonography (of a total of 1,009 indications). The clinical benefit of ultrasonography was evaluated in 289 randomly selected patients in a standardized questionnaire completed by the attending physicians. The final clinical diagnosis was established or substantially revised in 21.5% of the patients, based on the ultrasonographic report. The previously reported diagnosis was supported in 69.5% of the patients. Medical management was directly influenced in 26% of the patients. We conclude that the clinical benefit of ultrasonography at a district hospital in the tropics is substantial, providing cost-effective, immediate therapeutic benefits in 25% of the patients examined. The technique thereby contributes to better and more rational patient management in institutions with limited resources.

Ultrasonographical investigation of periportal fibrosis in children with Schistosoma mansoni infection: evaluation of morbidity.

Morbidity of Schistosoma mansoni infection was assessed in 536 infected Sudanese schoolchildren using an ultrasonographical staging system for periportal fibrosis of the liver. S. mansoni ova excretion in stools was mild in 28%, moderate in 58%, and severe in 14% of the patients. Grade 1 periportal fibrosis was found in 10.3% grade 2 in 23.1%, and grade 3 in 4.7% of S. mansoni-infected children. Girls and boys were equally affected. The distribution of periportal fibrosis compared to the age of patients was homogenous. There was no significant difference of the rate of periportal fibrosis in the 3 groups of intensity of infection. However, in the 204 patients who showed periportal fibrosis, there was a strong relation between severity of ultrasonographically detectable fibrosis with intensity of egg excretion. In 332 children, of which 73 had a heavy infection, no signs of periportal fibrosis were detected. Sudanese children show a variable susceptibility towards the development of S. mansoni-induced periportal fibrosis. High risk patients can be detected at a childhood stage by measuring the intensity of infection and investigating the liver by ultrasound.

Renal function and morphology in Sudanese patients with advanced hepatosplenic schistosomiasis and portal hypertension.

The association between glomerular disease and hepatosplenic schistosomiasis is well documented in reports from South America. During the present hospital investigation in Sudan, 58 patients admitted for intercurrent complications of advanced hepatosplenic schistosomiasis were studied. The patients, median age 35 years, had no concurrent Schistosoma haematobium infection. Diagnostic criteria included an enlarged spleen (n = 58), at least 1 episode of hematemesis (n = 55) and/or melena (n = 36), endoscopical demonstration of gastroesophageal varices (29/29 studied), ultrasonographical imaging of hepatic periportal fibrosis (18/18 studied), and intraoperative liver biopsy with characteristic histological findings (11/16 biopsied). Serum creatinine, urea, electrolytes, cholesterol, total protein, and electrophoresis were within normal limits. Median urinary protein/creatinine ratio was 0.06 and thereby not significantly different from European reference values. Only 1 patient had proteinuria of 1.7 g/l. Minimal hematuria was found in 5 patients. Ten kidney biopsies were taken intraoperatively during a portal decompression procedure (Hassab operation). Light, immunofluorescence, and electron microscopy produced no evidence of glomerulonephritis. These findings indicate that S. mansoni induced nephrotic syndrome may be less frequent in Sudan than in South America. Renal involvement due to S. mansoni infection may therefore encompass geographical variances.

Ultrasonography in a Senegalese community recently exposed to Schistosoma mansoni infection.

Inhabitants of Ndombo (n = 614), a village in an area recently infected with Schistosoma mansoni in Northern Senegal, were examined clinically, parasitologically, and ultrasonographically to investigate the presence and degree of S. mansoni-related hepatosplenic morbidity after a few years of exposure to schistosomal infection of regional canals. Despite previous praziquantel treatment of 56% of the inhabitants prior to our investigation, the prevalence of S. mansoni infection in 1993 was 90%, and 42% of the villagers excreted more than 1,000 eggs per gram of stool. Previously untreated individuals were found to have significantly higher egg counts than treated ones. Despite the high intensities of infection, ultrasonographically detected severe periportal thickening of the liver was infrequent. Grading according to body length-dependent normal values of cross-section diameter of peripheral portal vein branches of a European control group correlated with intensities of infection. Of the total group of patients, 30% (n = 182) had more severe thickening of portal vein branch diameters above the 97th percentile and 70% of these had a splenomegaly. The highest egg counts and the most frequent development of periportal thickening were found in 11-20 year-old individuals. Periportal thickening was less frequent in praziquantel-treated adolescents than in untreated ones. This suggests that early antischistosomal medication may be useful to limit schistosomiasis-induced hepatic morbidity especially in children, even though reinfection seems inevitable.

Morbidity of schistosomiasis mansoni in the highlands of Madagascar and comparison of current sonographical classification systems.

To study the morbidity of schistosomiasis mansoni in the highlands of Madagascar, a cross-sectional study examined the extent to which liver fibrosis occurred in a rural community. The Managil and the Cairo classification systems were used. A second purpose was to investigate the effect of the measurements of 2 different branches of the portal vein (either segmental or sub-segmental branches) on the resulting staging of morbidity using the Cairo classification system. In a rice farmer village, 656 inhabitants (95% of the total population) were parasitologically examined; 561 patients underwent sonographic work-up based on the Managil scoring system, and in 307 randomized patients the outer to outer diameters of both the segmental and the sub-segmental branches of the portal vein were measured and scored by the Cairo classification system. Overall prevalence of schistosomiasis mansoni in the study area in 1994 was 68.3%. Upon sonographic examination and scoring by the Managil system 23.4% of the population showed liver changes (Managil degree I/II/III, 20%/2.5%/0.9%). Measuring the sub-segmental branches only and scoring by the Cairo classification, 19% of the study population were found to have liver changes, none with severe fibrosis. By contrast, 82% were found to have liver changes (Cairo degree 1/2/3, 70%/11%/2%) when the segmental branches were measured. The diameters of the sub-segmental branches were about two-thirds of those of the segmental branches. Both the Cairo- and the Managil-examination protocols have pitfalls. Using the Cairo classification, a considerable systematic error in classifying morbidity is created by measuring different branches of the portal vein.

Adaptation of glutathion-peroxidase activity to oxidative stress occurs in children but not in adult patients with end-stage renal failure undergoing hemodialysis.

Lipid peroxidation (LPO) products formed after reaction of free radicals with membrane lipids are involved in the pathogenesis of cardiac diseases. Also in patients with end-stage renal disease (ESRD) LPO was shown to be accelerated and concentrations of non-enzymatic antioxidants were measured lower than in control subjects. However, up to now only limited knowledge about the role of antioxidant enzymes was available. Whether or not activity of those antioxidants might be induced due to oxidative stress in ESRD patients is not known. To answer the question the activity of 3 enzymatic antioxidants, superoxide dismutase (SOD), catalase (CAT), and glutathion peroxidase (GPx), was measured in red blood cells of the ESRD patients undergoing hemodialysis (2 groups: children and adults) and matching controls. LPO in these subjects was determined by measurement of the LPO product 4-hydroxynonenal (HNE) in blood plasma. Plasma HNE was significantly increased by factor 3 in both patient groups children and adults compared to the control groups. The activity of the enzymatic antioxidants was measured differently. While SOD was significantly lower in patients (children and adults) than in the matching controls this was not the case for catalase and GPx. While GPx activity in adult patients was comparable to that in the control groups (childrens and adults), the GPx in children with ESRD was almost twice as high than in the other groups. Since children were shown to have higher levels of glutathion, activated GPx might be a sign of adaptation of these children to the increased rate of oxidation.

Urinary protein analysis in the early detection of acute rejection episodes after renal transplantation in children.

The purpose of the present longitudinal investigation was to assess the predictive value of urinary protein analysis in the early detection of rejection crisis after renal transplantation. Forty-one children were studied consecutively over a period of 6 months applying the following methods: creatinine clearance (Ccr); urinary total protein (UTP); and electrophoretic differentiation of urinary proteins according to their molecular size by microgradient-gel electrophoresis (MGGE) with a continuous concentration gradient of 4-40% of polyacrylamide. Protein fractions analyzed were albumin (69,000 d), low molecular weight proteins (LMW-proteins, less than 69,000 d), and high molecular weight proteins (HMW-proteins, greater than 69,000 d). No rejection was observed in 30 children (group A), a total of 18 rejection episodes occurred in 11 children (group B). UTP was significantly lower in group A as compared to group B (107 vs 376 mg/m2/24 h), but no differences in urinary protein pattern were observed between group A and group B prior to rejection. One to two days after rejection UTP increased to 938 mg/m2/24 h, and 3-7 days after rejection LMW-protein fraction increased from 9% to 23% with a corresponding decrease of albumin fraction from 71% to 56% of UTP. No qualitative changes were noted in respect to HMW-protein excretion. It is concluded that changes of UTP and urinary protein pattern occur during rejection episodes but are of no predictive value in detecting rejection before clinical symptoms appear.

Steroid resistant nephrotic syndrome associated with spondyloepiphyseal dysplasia, transient ischemic attacks and lymphopenia.

Focal segmental glomerulosclerosis, nephrotic syndrome and chronic renal failure were associated with spondyloepiphyseal dysplasia, growth failure, lymphopenia and transient ischemic attacks leading to severe neurological symptoms in three children. Two boys and one girl developed the full syndrome at the age of 5, 6 and 10 years. Positron emission tomography revealed perfusion defects of both cerebral and cerebellar arteries. A variant of the disease was found in two other children who had a nephrotic syndrome and terminal renal failure with only mild spondyloepiphyseal dysplasia, impaired growth and a normal cerebral function. It is concluded that there may be a close association between focal segmental glomerulosclerosis and spondyloepiphyseal dysplasias.

Does treatment of renal anemia with recombinant erythropoietin influence oxidative stress in hemodialysis patients?

Patients with chronic renal failure (CRF) undergoing hemodialysis (HD) are exposed to constant oxidative stress, as shown by elevated malondialdehyde (MDA) plasma concentrations in HD patients. The aim of our study was to investigate the role of renal anemia in oxidative stress. To this end, MDA and 4-hydroxynonenal (HNE) were measured in three groups of patients. Group I comprised 8 patients with hemoglobin (Hb) < 10 g/dl (mean Hb 8.1 +/- 1.3 g/dl) and group II 8 patients with Hb > 10 g/dl (mean Hb 12.4 +/- 1.9 g/dl). None of these 16 patients had been previously treated with recombinant erythropoietin (rhEPO). Group III comprised 27 patients with mean Hb 10.5 +/- 1.6 g/dl after long-term treatment with rhEPO. The plasma concentrations of both MDA and HNE in all 43 HD patients were significantly higher (p < 0.0001) than in 20 healthy controls (MDA 2.85 +/- 0.25 vs 0.37 +/- 0.03 microM, HNE 0.32 +/- 0.03 versus 0.10 +/- 0.01 microM). Comparison between the three groups showed that the HD patients with Hb < 10 g/dl had significantly higher plasma concentrations of lipid peroxidation products (MDA 3.81 +/- 0.86 microM, HNE 0.45 +/- 0.07 microM) than either HD patients with Hb > 10 g/dl (MDA 2.77 +/- 0.58 microM, HNE 0.25 +/- 0.05 microM) or HD patients treated with rhEPO (MDA 2.50 +/- 0.12 microM, HNE 0.29 micro 0.03 microM). An inverse correlation was also demonstrated between plasma HNE and Hb (r= 0.62, p < 0.0001). It follows that a substantial part of the oxidative stress is due to renal anemia. Treatment with rhEPO can therefore effectively reduce oxidative stress in HD patients.

Cystatin C and creatinine after successful kidney transplantation in children.

BACKGROUND: Serum creatinine is commonly used for the monitoring of allograft function following renal transplantation (RTX). Due to lower muscle mass, creatinine production rate is reduced in children, thus decreasing its sensitivity for the detection of allograft dysfunction. In children, the serum concentration of cystatin C, a low molecular weight protein of 13.3 kDa, reflects glomerular filtration rate independent of age, height and body composition. We, therefore, sought to assess the potential of cystatin C as a marker of allograft function in children. METHODS: Cystatin C and creatinine were measured in parallel at least daily in 24 children (14 boys, 10 girls; mean age 10.5+/-5.1 years) during hospitalization after successful RTX. Cystatin was determined immunoturbidimetrically, creatinine enzymatically. RESULTS: Within one hour after RTX, cystatin C (mean+/-SE) almost halved from 6.69+/-0.45 mg/l to 3.69+/-0.38 mg/l while creatinine declined from 862 +/-65.4 to 633+/-62.9 micromol/l. Following a nadir of 1.82+/-0.18 mg/l on day 2, there was a secondary increase in cystatin C concentrations to 2.69+/-0.35 mg/l on day 10. Creatinine concentrations continued to decline until day 9 reaching 80.5+/-13.1 micromol/l. Day-to-day variation at steady-state was comparable. In the course of 9 acute rejection episodes, both parameters rose in parallel, the increase in creatinine concentration being much greater. CONCLUSION: Cystatin C was an early indicator of allograft function following successful RTX in children. It did not prove superior to creatinine for the recognition of acute allograft dysfunction, however.

Clinical course of hypophosphatemic rickets in 23 adults.

Twenty-three adult patients (19 females, 4 males) with x-linked hypophosphatemic rickets (HPR) underwent a retrospective evaluation of the clinical course and a clinical examination by a nephrologist, orthopedic surgeon and dentist. Blood and urine analysis, bone density measurements with QCT and DEXA, ultrasonic examination of the kidneys were performed and the patients were asked to fill in a standardized questionnaire on pain and psychosocial rehabilitation. Mean final height was 152.4 cm +/- 8.5 SD in females and 157.3 cm +/- 8.9 SD in males. Decreased joint mobility was seen in all patients, deviations of the normal leg axis in 18/23 patients in spite of 69 correcting osteotomies in the past. Dental (n = 14) and psychosocial problems were associated with inability to work (n = 8). There was a trend that patients with a very low Tp/GFR had a more severe course of the disease. Early therapy with vitamin D metabolites and phosphate had a beneficial effect on growth, bone density and deformations. Eight patients had nephrocalcinosis due to vitamin D and phosphate therapy and had normal kidney function. Four patients had urinary tract abnormalities. We conclude that patients with HPR should receive continuous interdisciplinary care given by nephrologists, orthopedic surgeons, physiotherapists and dentists not only during childhood but also as adults.