Late diagnosis of chronic granulomatous disease.

Modern era advancements in medical care, with improved treatment of infections, can result in delayed diagnosis of congenital immunodeficiencies. In this study we present a retrospective cohort of 16 patients diagnosed with Chronic Granulomatous Disease (CGD) at adulthood. Some of the patients had a milder clinical phenotype, but others had a classic phenotype with severe infectious and inflammatory complications reflecting a profoundly impaired neutrophil function. It is therefore of great importance to investigate the individual journey of each patient through different misdiagnoses and the threads which led to the correct diagnosis. Currently the recommended definitive treatment for CGD is hematopoietic stem cell transplantation (HSCT). Although survival of our patients to adulthood might argue against the need for early HSCT during infancy, we claim that the opposite is correct, as most of them grew to be severely ill and diagnosed at a stage when HSCT is debatable with potentially an unfavorable outcome. This cohort stresses the need to increase awareness of this severe congenital immunodeficiency among clinicians of different specialties who might be treating undiagnosed adult patients with CGD.

Chronic granulomatous disease of childhood: an unusual cause of recurrent uncommon infections in a 61-year-old man.

Chronic granulomatous disease (CGD) is a rare congenital immunodeficiency that affects 1 : 250,000 of the population, which is characterized by recurrent bacterial and fungal infections and by granuloma formation. We investigated a 61-year-old man presented with a 20-year history of a relapsing skin rash appearing as mildly pruritic and erythematous plaques affecting various body regions. Cutaneous biopsies were taken and sent for histology and tissue culture. Leucocyte function was assessed by determining the generation of reactive oxygen species. Bactericidal activity was assessed in the presence of autologous and homologous sera. Western blotting was performed for protein analysis of the reduced nicotinamide adenine dinucleotide phosphate oxidase system, and mutation screening was carried out using PCR amplification and sequence analysis. Examination of biopsies obtained from lesional skin indicated a suppurative granulomatous process. Tissue cultures grew Aspergillus nidulans and Aspergillus fumigatus (confirmed by PCR). A. nidulans has often been associated with CGD, and the leucocyte function tests supported this diagnosis. Direct DNA sequencing led to the identification of a hemizygous missense novel mutation in CYBB (c.907C>T), which predicts a p.His303Tyr amino-acid substitution in gp91-phox, thus confirming the diagnosis of CGD. In conclusion, we report a case of a rare inherited immunodeficiency, CGD, in a 61-year-old man, and describe the novel hemizygous missense mutation underlying the condition. Mild forms of usually fatal immunodeficiencies should be considered when assessing the occurrence of unusual infectious diseases in apparently healthy people.

Improved chemotactic ability of neonatal polymorphonuclear cells induced by mild membrane rigidification.

Membrane lipid fluidity of peripheral blood polymorphonuclear cells (PMNs) of 24 newborn infants, 2-4 days after birth, was determined by steady-state fluorescence polarization with 1,6-diphenyl 1,3,5-hexatriene (DPH) as a probe and compared with that of PMNs from 23 adults. Measurements with intact cells, which correspond to all cellular lipid domains, did not display any statistically significant difference between PMNs of the two groups. However, application of bixinoyl glucosamine, a membrane-impermeable fluorescence quencher, revealed that the PMN plasma membrane of the newborn is about 23% more fluid than that of the adult. Total cholesterol-to-phospholipid ratio of newborn PMNs was found to be lower by about 10% than that of the adult, which could account for the difference in their plasma membrane fluidity. The possible implication of this finding for the deficit in chemotactic ability of leukocytes from newborns was tested with neonatal PMNs that have incorporated cholesteryl hemisuccinate (CHS), an efficient plasma membrane rigidifier. In all neonatal PMNs tested a mild incorporation of CHS (0.5-1 min incubation in 50 micrograms/ml dispersion) caused a significant improvement in their net chemotaxis, from an average value of 28 +/- 7 to 43 +/- 11. Longer incubations with CHS caused a gradual decrease in chemotactic ability that approached the basal level after about 5 min incubation. The net chemotaxis in adult PMNs was significantly higher than that of neonatal PMNs (72 +/- 13) and was gradually inhibited by incorporation of CHS without any initial augmentation. Based on these results it was estimated that about 27% of the chemotactic deficit of neonatal PMNs is mediated by their immature fluid membrane.

Unintentional childhood poisoning in the Sharon area in Israel: a prospective 5-year study.

OBJECTIVES: To study the epidemiology and risk factors for unintentional exposure to poisoning among the Jewish and the Arab population in the Sharon area in Israel. METHODS: We prospectively evaluated visits to the pediatric emergency department because of unintentional poisoning exposure, at the Meir General Hospital. We collected demographic data, substance exposure data, and the clinical outcome of the poisoning. RESULTS: During the 5 years of the study, 502 children were evaluated for unintentional poisoning, 84% Jewish and 16% Arabs; 88.5% occurred in children younger than 5 years, with a peak incidence at the age of 2 years (39.5%). Medications including hormones, vitamins, and antibiotics were the most common cause of exposure. Most children (95%) had no symptoms or abnormal findings on physical examination (84%), and most (85%) were discharged after several hours of observation. However, children of Arab origin presented with severe clinical manifestations because of a high rate of pesticide poisoning. There was 1 death from organic phosphate poisoning. CONCLUSION: Exposure to poisoning is commonly encountered in children. Pesticides exposure is more common in the Arab community and is usually associated with more severe clinical manifestations. Educational preventive programs are mandatory.

Resting energy expenditure in patients with thalassemia major.

The effect of non-iron-deficiency anemia was studied in seven patients with thalassemia major (beta thalassemia) ages 22-30 y. Each patient was studied before and 3 days after blood transfusion. Hemoglobin concentrations increased significantly after blood transfusion (111-153 vs 81-102 g/L, P < 0.02). Heart rate decreased from 96 +/- 12 to 81 +/- 7 beats/min (mean +/- SD; P < 0.05). No significant difference was found in venous blood pH, bicarbonate concentrations, or lactic acid concentrations before and after blood transfusion. Resting energy expenditure (REE) was greater before blood transfusion in absolute numbers and as a percentage of the predicted value, and returned to normal range thereafter (6138 +/- 112 vs 5678 +/- 738 kJ.kg-1.d-1 and 111.7 +/- 11.3% vs 103.2 +/- 7.8%, respectively). Protein contribution to REE was low before blood transfusion (9.7 +/- 4.2%) and returned to normal range thereafter (15.3 +/- 5.2%) (P < 0.09). This finding may indicate that increased protein turnover as well as increased cardiac work contribute to the observed increase in REE.

Acute renal failure in a neonate caused by the transplacental transfer of a nephrotoxic paraprotein: successful resolution by exchange transfusion.

Acute renal failure was diagnosed within 6 days of birth in a full-term neonate. The mother was known to have a monoclonal gammopathy, immunoglobulin G (IgG) lambda, discovered a year before pregnancy on being investigated for hematuria and proteinuria. Her renal function was intact. Maternal renal biopsy performed at the time showed a focal proliferative glomerulonephritis with nonfibrillary homogeneous mesangial and intramembranous electron-dense deposits. Immunoperoxidase staining was positive for IgG and lambda and kappa light chains along the glomerular and tubular basement membranes. Pregnancy was uneventful. Protein electrophoresis and immunofixation of the infant girl's serum and urine samples showed the presence of a paraprotein electrophoretically identical to that found in the mother. Exchange transfusion resulted in a rapid improvement of renal function in parallel to the disappearance of the monoclonal component.

Sleep and pulmonary function in children with well-controlled, stable asthma.

The aim of this study was to assess sleep and pulmonary function in asthmatic and control children. Forty children with well-controlled, stable asthma, and 34 controls (age range: 8.2 to 15.4 years) were monitored with wrist actigraphs and peak-flow meters for 3 consecutive days. In addition, asthma severity was assessed by subjective parental and self-rating scale and symptom checklist. Asthmatic children had poorer sleep quality in comparison to their controls, as manifested in lower percentages of quiet sleep (p < .05) and increased activity level during sleep (p < .05). As expected, asthmatic children had reduced morning peak expiratory flow measures (p < .01) and a higher evening-to-morning drop in peak expiratory flow (p < .005). Peak-flow measures were significantly correlated with subjective and objective sleep measures. In the asthmatic group, sleep measures were also correlated with subjective asthma severity indices and symptom checklists. We conclude that poorer sleep is associated with reduced pulmonary function. The reduced sleep quality, coupled with subjective reports of increased fatigue and reduced alertness found in asthmatic children, suggest that these children are at risk for developing neurobehavioral deficits associated with chronic sleep loss.

Dilemma of trisomy 20 mosaicism detected prenatally: is it an innocent finding?

The clinical significance of mosaicism trisomy 20 detected prenatally following amniocentesis remains uncertain, due to the rarity of liveborn cases with inconsistent clinical findings, the short postnatal follow-up, and failure in evaluating other fetal tissues for the presence of the trisomy. We report on a 15 month-old 46,XX chromosome constitution in white blood cells, while skin fibroblasts demonstrated trisomy 20 mosaicism (54%) by fluorescence in situ hybridization (FISH) analysis. Clinical examination of the baby showed only minor phenotypic signs (bilateral epicanthal folds, delayed closure of fontanel with no other gross anomalies), but demonstrated a considerable developmental delay in gross and fine motor skills along with hypotonicity. This is the second oldest described liveborn with trisomy 20 mosaicism confirmed in skin fibroblasts. This cytogenetic aberration along with her developmental delay suggests that the two findings are related and that aberration affects various fetal tissues and is not confined to extra-embryonic tissue as suggested previously. Yet, an undiagnosed condition may be the cause of the child's developmental delay. Based on this case and following a review of the literature we suggest that when mosaic trisomy 20 is identified in amniocytes, further evaluation is required. Cord blood should be analyzed preferably by FISH. During counseling the parents should be advised of an additional risk, such as developmental delay, even when fetal cord karyotype and detailed ultrasonic scan are normal.

Thrombocytosis after pneumonia with empyema and other bacterial infections in children.

Thrombocytosis is seen in association with many conditions, including infectious diseases. We studied thrombocytosis after severe bacterial infections, particularly pneumonia with empyema in children. A systematic survey of the phenomenon was conducted. Twenty-seven children admitted for pneumonia with empyema were studied. Thrombocytosis (platelet counts greater than 500 x 10(3)/microliters) was present in 92.5%. Platelet counts reached their maximum at 15.1 +/- 3.7 days (range, 7 to 25) and declined to normal after 3 weeks of illness. Compared with a healthy control group, significant thrombocytosis, but of lower incidence, was also noted in children with lobar pneumonia without pleural effusion, bacterial meningitis and osteomyelitis. Platelet functions were examined in seven of the children but no abnormalities were observed. Bone marrow aspiration of three children with pneumonia and empyema showed megakaryocytic hyperplasia. We found no correlation between thrombocytosis, neutrophilia, fever, the clinical course, complications, prognosis or treatment. Neither thromboembolic nor hemorrhagic phenomena were observed.

Clinical and laboratory findings of spotted fever in Israeli children.

In a prospective study of 70 Israeli children with spotted fever the major clinical features were fever (100%), skin rash (98.5%), myalgia (54%) and vomiting (40%). Thrombocytopenia (75%) and hyponatremia (62.5%) were common, but were not associated with increased mortality. Antibodies to Rickettsia conorii were detected by the indirect immunofluorescent antibody assay. In one patient Rickettsia was grown from blood. Contacts with dogs were reported in 17 of 40 patients questioned, and in only 2 was a canine tick bite obvious. Hospitalization was required in 11 (16%) patients. There was 1 fatality. The rickettsia responsible for spotted fever in Israel appears to be an antigenic variant of R. conorii. Early recognition and treatment of this disease permits rapid eradication of the rickettsiae and facilitates complete recovery.

Oral ciprofloxacin in the management of chronic suppurative otitis media without cholesteatoma in children: preliminary experience in 21 children.

The current medical management of children with chronic suppurative otitis media without cholesteatoma unresponsive to local treatment and oral antibiotics is intravenous antibiotic therapy in the hospital setting. We studied the efficacy and toxicity of oral ciprofloxacin in chronic suppurative otitis media. Twenty-one children received oral ciprofloxacin, 30 mg/kg/day. Ear discharge was positive for bacteria resistant to other oral medications and susceptible to the quinolones. The mean duration of treatment was 16.7 days. In 18 children suppuration ceased and 3 failed their first course. During a mean follow-up of 15.4 months, 6 children remained free of ear, nose and throat problems. Otorrhea recurred in 12 children. Ear cultures were positive for organisms susceptible to amoxicillin in 5 of them. In 7 cases Pseudomonas aeruginosa was again isolated from otorrhea. Repeated antibiotic therapy was advocated only in 3 (2 responded to ciprofloxacin; 1 failed ciprofloxacin and was cured by ceftazidime). Adverse clinical effects were not observed. Transient neutropenia was observed in 1 child. There was no change in the height percentile. The results of this study show that children with chronic suppurative otitis media without cholesteatoma can be effectively treated with oral ciprofloxacin. This novel approach may prevent hospitalization.

Childhood brucellosis in Israel.

BACKGROUND: Brucellosis has become a major medical problem in Israel particularly in the Muslim Arab population. METHODS: Eighty-eight children with acute brucellosis are described. Sixty-seven were studied retrospectively during 1987 through 1988, and 21 children were studied prospectively during 1989 through 1992. Epidemiologic, clinical and laboratory features were evaluated, and the outcome of 4 antimicrobial regimens are compared. RESULTS: Although the clinical manifestation varied, the classical triad of fever (91%), arthralgia or arthritis (83%) and hepato- and/or splenomegaly (63%) characterized most patients. Sixty-one percent of the children had elevated liver enzymes. Brucella melitensis was isolated from 61% of blood cultures. The relapse rate in patients who were treated with monotherapy (doxycycline) was 43% compared with 14% with regimens of combined therapy with rifampin and doxycycline, streptomycin and doxycycline or rifampin and trimethoprim-sulfamethoxazole (P < 0.049). Eleven children (33%) who were treated for 3 weeks had relapse compared with 1 patient (3.5%) treated for 4 weeks or longer. The total relapse or reinfection rate was 20%. All patients with relapse recovered after a second course of antibiotic therapy. During the 2 years of follow-up one child progressed to chronic osteomyelitis. CONCLUSIONS: Combination therapy and extending treatment for 4 weeks or longer gave significantly better results than monotherapy or shorter courses of therapy and resulted in fewer relapses.

Once daily cefixime compared with twice daily trimethoprim/sulfamethoxazole for treatment of urinary tract infection in infants and children.

We conducted a randomized prospective multicenter study to compare the safety and efficacy of once daily oral cefixime (8 mg/kg) to twice daily oral trimethoprim/sulfamethoxazole (TMP/SMX) (8/40 mg/kg/day) for the treatment of acute urinary tract infection in children ages 6 months to 13 years. Seventy-six patients (38 in each group) were studied. Thirty-seven percent were younger than 3 years of age. Escherichia coli was the most common isolate in both groups (85%). Eighty-five percent of all Gram-negative organisms were susceptible to TMP/SMX and all were susceptible to cefixime. Seventy-two percent of all patients were febrile at the time of diagnosis. Both groups were treated for 7 to 10 days. Peripheral white blood cell counts, erythrocyte sedimentation rate, body temperature and urinalysis returned to normal at the same rate in both groups. No failures were observed and relapse occurred in 3 cases within the 4 weeks after treatment (2 in the cefixime group and one in the TMP/SMX group). Side effects were observed in 14% of the cefixime group and 16% of the TMP/SMX group and were all mild enough not to necessitate discontinuation of therapy. We conclude that the efficacy and safety of cefixime administered once daily compared favorably with TMP/SMX administered twice daily for acute uncomplicated urinary tract infection.

Successful treatment of invasive aspergillosis in chronic granulomatous disease by granulocyte transfusions followed by peripheral blood stem cell transplantation.

Chronic granulomatous disease (CGD) is a primary immunodeficiency disorder characterized by impaired microbial killing and susceptibility to bacterial and fungal infections. Cure of the disease can be achieved by stem cell transplantation when performed early in its course, and before severe infections have developed. Invasive aspergillosis constitutes a very high risk for transplantation. We report a 4-year-old boy with X-linked CGD who underwent successful HLA-identical peripheral blood stem cell (PBSC) transplantation during invasive pulmonary aspergillosis and osteomyelitis of the left fourth rib, which was unresponsive to antifungal treatment. During the 2 months prior to the transplant he received G-CSF-mobilized granulocyte transfusions (GTX) from unrelated donors three times a week in addition to the antifungal treatment. This resulted in clinical improvement in his respiratory status. He also received GTX during the aplastic period after the conditioning regimen, until he had engrafted. Post-transplant superoxide generation test revealed that neutrophil function was within normal range. One year post transplant the CT scan showed almost complete clearance of the pulmonary infiltrates and a marked improvement in the osteomyelitic process. Based on other reports and our own experience, GTX can serve as important treatment in patients with CGD who have failed conventional anti-fungal treatment and for whom stem cell transplantation is the only chance for cure.

Neonatal sepsis: pathogenesis and supportive therapy.

Bacterial infections remain an important cause of neonatal mortality and morbidity. Pathogenesis of the neonate's predilection to infection are multifactorial. Factors directly attributable to the infant include humoral, phagocytic, and cellular deficiencies. Septic neonates may have reduced neutrophil storage pools that cause profound neutropenia. Both correlate with poor prognosis. Antibiotic administration is mandatory in neonatal sepsis. Supplementary treatments may be useful. Granulocyte transfusions, when available, provide neutrophils, improving the neonate's neutrophil count and neutrophil function. The efficacy of intravenous immunoglobulin (i.v.IG) is questionable because the prophylactic and therapeutic administration of i.v.IG fails to reduce the incidence of bacterial infections or affect the overall survival rate. Hyperimmune preparations seem to be more effective. The administration of granulocyte colony-stimulating factor induces myeloid progenitor proliferation, enhances the neutrophil storage pool, produces neutrophilia, and improves neutrophil function. More extensive, well-designed, and carefully control trials are needed to determine the benefit of supportive therapies for neonatal sepsis.

Early immunological defects in comatose patients after acute brain injury.

OBJECT: The aim of this prospective study was to evaluate the phagocytic, humoral, and cellular arms of the immune system in comatose patients shortly after severe brain injury and to compare the findings with those reported earlier in patients in a persistent vegetative state. The study was conducted in intensive care units and immunology laboratories of university-affiliated hospitals in central Israel. METHODS: The study group consisted of 14 men aged 16 to 65 years who were comatose as a result of acute brain injury due to mechanical trauma. All were studied within 72 hours of injury. Brain damage was severe in all cases (Glasgow Coma Scale score < 8). Healthy age- and sex-matched volunteers served as simultaneous controls. Infections arose in nine (75%) of the 12 patients in whom data were available; the cumulative mortality rate was 38% (five of 13 patients in whom outcome data were available). Every patient exhibited one or more defects in at least one arm of the immune system. Significant deficiencies were noted in neutrophil superoxide release, immunoglobulin (Ig)G, IgG1, IgM, C1q, C2, properdin, alternate C pathway, T cells, T helper cells, T suppressor cells, and natural killer cells. In an earlier series of patients examined by the authors months after the primary insult, these impairments were absent in most of the patients in the vegetative state. CONCLUSIONS: Significant deficiencies of the immune system, particularly the cellular arm, are precipitated by severe brain injury within 72 hours of the event. These impairments probably play a role in the high rate of complicating infections and multiple organ failure. Together with earlier findings, the results of this study indicate that if brain-injured patients survive these hazards, their immune system will eventually recover.

Lymphocytic interstitial pneumonitis preceding polyarticular juvenile rheumatoid arthritis.

We describe the case of a 12-year-old girl who developed lymphocytic interstitial pneumonitis at 2 years of age which preceded polyarticular rheumatoid factor (RF) positive juvenile arthritis. Her disease had a chronic active course, but showed a good response to combination therapy. The pathogenesis of these two immune processes and of the lung involvement in juvenile arthritis is discussed.

Juvenile Behçet's disease in Israel. The Pediatric Rheumatology Study Group of Israel.

OBJECTIVE: Behçet's disease (BD) is a vasculitis mainly observed in young adult males. Juvenile BD is rare and only small series of pediatric cases have been reported. The objective of this study was to define the epidemiology and clinical features of BD among Israeli children. METHODS: A questionnaire was sent to 8 pediatric rheumatology units in Israel and 30 cases of BD diagnosed before the age of 16 years were identified. RESULTS: Fifteen patients fulfilled the International Study Group Criteria for BD, while 15 had an incomplete form of BD. Among the patients with complete BD, stomatitis and skin involvement were the most common manifestations. Other symptoms included genital ulcers, uveitis, CNS involvement, arthritis, and gastrointestinal involvement. A positive family history was elicited in 3 patients. HLA B5 was found in 7 of 12 patients (58%). The 15 patients with incomplete BD all had recurrent stomatitis; other manifestations included uveitis, arthritis, and genital ulcers. HLA B5 was found in 94% of this group. CONCLUSION: Juvenile BD in Israel is not uncommon, and is frequently associated with HLA B5 positivity. This could indicate a genetic susceptibility in our region. Half of the patients in our series had an incomplete form of BD, which may represent a less severe variant of the disease. In any case, careful follow-up is required, since their condition could eventually evolve into complete BD.

Is greater than normal nocturnal heart rate in children with renal scars a predictor of reflux nephropathy?

BACKGROUND: The existence of renal scars constitutes the major etiologic factor for the development of hypertension during childhood. Elevated blood pressure in this setting can be considered a secondary form of hypertension. Certain forms of secondary hypertension have been associated with a lower than normal nocturnal fall in blood pressure. Resting heart rate per se has recently been reported to be an independent predictor of risk for cardiovascular mortality irrespective of age and the presence or lack of hypertension. OBJECTIVE: To ascertain the responses of heart rate and blood pressure in normotensive children with renal scars without, however, proteinuria and renal failure. METHODS: Ten children with renal scars documented by a 99Tc dimercaptosuccinic acid (DMSA) scan were subjected to ambulatory blood pressure monitoring. Ten age-matched and sex-matched healthy children served as the control group. Serum urea and creatinine levels, calculated rate of clearance of creatinine, microalbuminuria, plasma renin activity, and levels of aldosterone and catecholamines were determined for each subject. RESULTS: Average daytime and night-time systolic and diastolic blood pressures for the two groups did not differ. Subjects in both groups demonstrated the physiologic decrease in blood pressure during sleep (normal 'dipper' response), which was of equal magnitude for these two groups. Mean daytime heart rates were 92+/- 13 beats/min in children with renal scars versus 80+/-11 beats/min in controls (NS). Mean and minimal heart rates during night-time in children with renal scars were found to be significantly greater [79+/-6 versus 65+/-5 beats/min (mean) and 61+/-10 versus 56+/-7 beats/min (minimal), P < 0.01]. Parameters of renal function, plasma renin activity, and levels of aldosterone and catecholamines were similar for these two groups. CONCLUSION: Despite their having an equivalent physiologic dip in blood pressure during night-time, normotensive children with renal scars have a significantly greater nocturnal heart rate than do control subjects.

Ambulatory blood pressure monitoring in children with a solitary kidney - a comparison between unilateral renal agenesis and uninephrectomy.

BACKGROUND: In experimental animals, a reduction in renal mass leads to glomerulosclerosis of the residual parenchyma and eventual renal failure. In humans, however, data on the influence of nephrectomy or agenesis on future functional parameters and hypertension are as yet controversial. OBJECTIVE: To evaluate blood-pressure patterns in children with a solitary kidney as a result of either unilateral renal agenesis (URA) or uninephrectomy (UNX) and correlate them to the increase in size of the remaining kidney. METHODS: Twenty-eight children with a solitary kidney were divided into two groups: the URA group, with 18 subjects (13 male and five female, with a mean age of 9.6 +/- 3.9 years), and the UNX group, which contained 10 subjects (four male and six female, with a mean age of 14.0 +/- 2.7 years). The mean time since nephrectomy was 8.7 years. Each study group was assigned an age-, weight- and height-matched control group. In all subjects, ambulatory blood pressure monitoring was performed using the SpaceLabs model no. 90207. Daytime and night-time were defined as 0800-2200 h and 2200-0800 h, respectively. Urinalysis, serum creatinine and urea results were recorded for all the study group participants. The size of the remaining kidney was determined by ultrasound examination. The percentage increase in kidney size, as calculated from standard kidney-length-against-age nomograms was correlated to the percentage deviation from normal blood pressure values. RESULTS: The mean 24 h, daytime and night-time systolic blood pressure (SBP) readings were significantly higher in children in the URA group than in those in the corresponding control group (111.4 +/- 7.5 mmHg versus 106.9 +/- 6.7 mmHg, P < 0.004; 115.2 +/- 3.1 mmHg versus 110.7 +/- 3.4 mmHg, P < 0.004; and 105.2 +/- 2.6 mmHg versus 101.2 +/- 1.8 mmHg, P < 0.002, respectively). Daytime heart rate was found to be significantly reduced (84.4 +/- 5.2 versus 87.8 +/- 8.2 beats/min, P < 0.04). In the UNX group, 24 h mean, systolic and diastolic blood pressure (DBP), as well as heart rate, did not differ from control values. Daytime systolic and diastolic blood pressures were higher than those of the controls (119.8 +/- 4.0 mmHg versus 115.5 +/- 3.8 mmHg, P < 0.02; and 72.7 +/- 4.0 mmHg versus 70.0 +/- 11.0 mmHg, P < 0.02, respectively). Nocturnal dipping was present in all groups and was of equal magnitude in the corresponding control groups. The mean 24 h diastolic blood pressure load was significantly greater in URA patients than in controls (19.6 versus 10.8%, respectively, P < 0.01). In the UNX group, the blood pressure loads were similar to those of controls. The percentage increase in length of the remaining kidney was found to correlate positively with the percentage delta increase in both systolic and diastolic blood pressure. CONCLUSIONS: Compared with the age-, height- and weight-matched controls, the children with a solitary kidney caused by URA had an elevated mean 24 h SBP. In contrast, those with UNX had mean 24 h blood pressure values similar to those of their controls. A rise in SBP was, however, seen in both groups during the daytime hours. Thus, the presence of a solitary kidney, for whatever reason, may be pathogenetically linked to a raised blood pressure, and this linkage may be more pronounced in URA. The delta increase in size of the remaining kidney may serve as a prognostic indicator of blood pressure elevation.