Cerebral venous thrombosis in the nephrotic syndrome.

A 4-year-old boy with idiopathic steroid responsive nephritic syndrome developed bilateral sixth-nerve palsy and lethargy secondary to cerebral sinus thrombosis. Treatment with heparin, fresh frozen plasma as source of antithrombin III and vitamin K inhibitors may have prevented further sequels. However, anti-coagulation, as assessed by partial thromboplastin and prothrombin time, was difficult to achieve. Despite these problems the child made a complete neurological recovery.

Osteopetrosis in children.

Over a 10-year period, 28 Arab children with autosomal recessive osteopetrosis were seen in two hospitals in Riyadh, Saudi Arabia. Eighteen (64%) had osteopetrosis associated with metabolic acidosis probably due to a renal tubular defect; nine (32%) had a malignant infantile form of osteopetrosis and one had a mild form with delayed onset. Parental consanguinity was 56% and 40% among patients with and without acidosis respectively. Somatic and psychomotor retardation and recurrent bone fractures were common in both groups. Dental caries, cerebral calcification and optic atrophy were more frequent in patients with acidosis, while anaemia, hepatosplenomegaly and deafness were more common in patients without acidosis. To guarantee optimal rehabilitation, children with this progressive disease require an early multiteam approach.

CAPD in saudi arabian children: ten years experience from a single center.

In this paper we describe our experience with chronic ambulatory peritoneal dialysis (CAPD) in children. Between 1984 and 1993, a total of 51 patients were treated by CAPD at King Khalid University Hospital. Eight patients were excluded from the study because of incomplete data. There were 25 boys and 18 girls aged three months to 16 years; 12 patients (27.9%) were below two years, 15 patients (34.9%) were between 2-6 years, and 16 patients (37.2%) were above six years of age. Reflux nephropathy secondary to obstructive uropathy was the main cause of ESRD in the study patients (27.9%). The total period of CAPD was 579 patient-months (48.25 years). The overall incidence of peritonitis was high, one episode per 4.7 patient months; one episode per 3.2 patient months in the first five years of the study and one episode per 6.2 patient-months in the 2nd five years of the study period. The cause of peritonitis was gram positive organisms in 38.7% and gram negative organisms in 24.9%. Seventeen (39.5%) of catheters were changed because of infection or mechanical obstruction. In 90.7% of patients, the mother was the person who was performing dialysis. At the end of the study, seven patients (16.2%) were still on CAPD, 10 patients (23.3%) shifted to heraodialysls, 16 patients (37.2%) were transplanted, six patients (14.0%) died and four patients (9.3%) recovered. We conclude that CAPD may be a suitable renal replacement therapy for children in a country with a wide geographical area and low population density as Saudi Arabia.

The impact of renal biopsy in the clinical management of childhood renal disease.

This study was carried out to determine whether renal biopsy altered patient management or expected prognosis among children with renal disease. A retrospective analysis of case records of 106 children with renal disease having adequate renal biopsies was made. The diagnosis was altered in 47.2% and therapeutic approach was changed in 33% of the patients after obtaining the renal biopsy findings. Also, the estimate of prognosis was altered in 31.1% of the cases. These results were greater for patients with steroid resistant and congenital nephrotic syndrome, acute renal failure, asymptomatic urinary abnormalities and mixed nephritic-nephrotic syndrome. Subsequent management and prognosis was least affected by the biopsy results in patients with steroid sensitive nephrotic syndrome and chronic renal failure.

Acrorenal syndrome associated with visual defect.

The clinical biochemical, radiological, and histological data of a 5-year-old boy with severe limb deformities and renal failure due to oligomeganephronia and renal hypoplasia are reported. This patient represents another example of acrorenal syndrome. This boy has a severe visual defect due to pigmentory retinopathy, which has not been reported previously.

Hepatitis C virus infection in two groups of paediatric patients: one maintained on haemodialysis and the other on continuous ambulatory peritoneal dialysis.

Seropositivity to hepatitis C virus (HCV) was evaluated in three groups of Saudi children. One group (n = 18) was maintained on haemodialysis and another group (n = 21) on continuous ambulatory peritoneal dialysis (CAPD). The third group were community-based normal controls. The prevalence of antibody to HCV (anti-HCV) in children on haemodialysis (11.2%) was significantly higher than that in the control group (n = 220) (1.4%; p = 0.056). There was no significant difference in the prevalence of anti-HCV between children on CAPD (4.8%) and the control group (1.4%; p = 0.244). Among ten children on haemodialysis who were anti-HCV-negative 4 years earlier, two seroconverted and the seroconversion was not due to transfused blood but was most likely due to environmental contamination. This is the first report on the prevalence of anti-HCV in children maintained on CAPD. The results of the study emphasize the need for separate dialysis machines for anti-HCV-positive patients. It seems that CAPD therapy might reduce transmission of HCV but a large number of CAPD patients will need to be studied to confirm superiority to haemodialysis in this respect.

Coagulopathy of childhood nephrotic syndrome--a reappraisal of the role of natural anticoagulants and fibrinolysis.

In an attempt to characterise further the coagulopathy of childhood nephrotic syndrome, this study concentrates on simultaneous measurements of the natural anticoagulants [antithrombin III (ATIII), proteins C and S] and the fibrinolytic factors, tissue plasminogen activator (tPA) and plasminogen activator inhibitor (PAI). The study groups consisted of 41 children (ages ranging from 2 to 14 years; median 7.1) in the relapse of nephrosis and 48 children (ages ranging from 3 to 14 years; median 7.6) in remission. The results obtained were compared with normal values obtained in healthy age- and sex-matched controls (n = 103). During relapse, there was a marked increase in the plasma level of fibrinogen, protein C, and protein S and reduced plasma ATIII level; tPA level was similar to control but PAI level exhibited a significant reduction. During remission, the protein C level either remained elevated or increased further, but some decreased. Protein S and plasma ATIII level normalised. The fibrinolytic activator tPA dropped slightly but the PAI level remained significantly below control levels. We conclude that in the relapse of childhood nephrosis, despite the existence of a significant prothrombotic tendency as featured by hyperfibrinogenaemia and markedly reduced ATIII level, the simultaneous elevation of the natural anticoagulant, protein C level and enhanced fibrinolysis that persist until the remission phase, seem to be major preventive mechanisms guarding nephrotic children against thromboembolic phenomena.

Normal levels of the natural anticoagulants (proteins C & S and antithrombin III) and the fibrinolytic factors (tPA and PAI) in Arab children.

The diagnosis of many hemostatic defects in infancy and childhood depends on the establishment of normal levels of various hemostatic factors. In this study, measurements of the natural anticoagulants (proteins C, S, and antithrombin III), as well as the fibrinolytic factors (tPA and PAI) were undertaken in healthy neonates (cord blood; n = 56), as well as in healthy children, up to 12 years of age (n = 103). The results were compared to normal adult values obtained from blood donors (n = 49). Neonatal values were found to be 50% of those obtained in adults and their mean concentrations were as follows: ATIII antigen = 48.4%, ATIII activity = 61.6%, protein C antigen = 47.7%, protein C activity = 57.2%, total protein S = 41.8% and tPA = 1.9 ng/mL. PAI level (25.7 ng/mL) was similar to adult values. In the first three years of life, almost all the hemostatic factors, other than PAI, gained adults levels. The diminished concentrations of the natural anticoagulants, in addition to the hypofibrinolysis in neonates, shifts the hemostatic balance towards fibrin formation and safeguards effective hemostasis. The values obtained in this study may serve as local reference values.

Hepatitis E virus infection in patients from Saudi Arabia with sickle cell anaemia and beta-thalassemia major: possible transmission by blood transfusion.

The seroprevalence of antibodies against hepatitis E virus (HEV) and hepatitis C virus (HCV) was investigated in Saudi children with sickle cell anaemia (SCA) (50 patients: 28 boys, 22 girls; age range 2-14 years) and beta-thalassemia major (28 patients: 12 boys, 16 girls; age range 2-12 years). The SCA patients were from the Gizan area (South) while the thalassemics were from the Riyadh area (Central province). The prevalence of hepatitis E virus antibody (HEVAb) in patients with SCA (18.0%) and in those with beta-thalassemia major (10.7%) was higher than in the control groups (5.5% and 2.8%) but this did not reach the level of statistical significance. In contrast to the situation with HEV, hepatitis C virus antibody (HCVAb) positivity was significantly higher in patients with SCA (16.0%) and in thalassemics (57.1%) than in the respective control groups. Although the difference in HEV seropositivity between beta-thalassemia major, SCA patients and their respective controls is not statistically significant, the possibility of blood-borne HEV in the Saudi population cannot be excluded. Further investigations using HEV-specific polymerase chain reaction techniques are required to confirm whether transmission of HEV through blood preparations or transfusion is possible.

Nonketotic hyperglycinemia: A life-threatening disorder in Saudi newborns.

Nonketotic hyperglycinemia (NKH) is an autosomal recessive disorder due to a fundamental defect in the glycine cleavage system, which leads to neuronal dysfunction caused by two receptor-mediated mechanisms. It is a life-threatening condition in the neonate. Until now, the disease has not been described from Saudi Arabia. We report on three Saudi newborns (two males and one female) who had NKH. Two of these were siblings (male and female). Following uneventful deliveries, they presented between the first and third day of life with progressive lethargy, poor feeding, recurrent apnea and severe hypotonia. Two newborns had myoclonic seizures, whereas electroencephalogram showed burst-suppression pattern in all of them. The diagnosis was confirmed by high cerebrospinal fluid/plasma glycine ratio (0.2 and 1.08) in two patients (normal < 0.030, whereas a sibling of one of the neonates had a high glycine level. Both siblings died during the second month of life despite therapy with dextromethorphan (an N-methyl-D-asparate [NMDA] receptor antagonist) in one of them. The third day had ketamine (noncompetitive NMDA receptor antagonist) and sodium benzoate (that conjugates with glycine, forming nontoxic hippuric acid). Although his seizures were controlled, he survived with severe neurological sequelae.

Vesicoureteral reflux in children. Experience in riyadh, saudi arabia.

There are a few reports about the size of the problem of vesicoureteral reflux (VUR) in developing countries. We attempted in our study to assess the experience of this problem in children in a tertiary care medical center in the period between June 1983 till June 1993. VUR was diagnosed in 24 patients, of whom 71% were boys. The mean age of the patients was 36.5 months; seven (29%) of them were below one year of age. The commonest presentation was urinary tract infection. E. coli was the most common organism and was resistant to the first chpice chemoprophylaxis in 50% of cases. Urine culture was also positive in 37.5% of children who were grossly asymptomatic. Ultrasound study failed to detect VUR in 25% of cases. There were eleven patients with mild to moderate reflux (grades I, II, III) of whom 9% required ureter reimplantation by open surgery. Eleven patients had severe reflux (grades IV,V) of whom 72% required the same procedure. Post-operatively, of the nine patients who had reimplantation, seven (77.5%) had successful surgery and maintained normal renal function after a mean duration of follow up of 30 months (range from 6 to 84 months), one patient developed end-stage renal disease, and one patient was lost to follow-up. We conclude that VUR is not uncommon in early childhood. Early referral of severe cases for surgical reimplantation is recommended.

Renal sonographic patterns in Bartter's syndrome.

The renal sonographic findings in ten cases of Bartter s syndrome investigated at the King Khalid University Hospital, Riyadh, Saudi Arabia are described. There were various sonographic abnormalities other than those of hyperechoic pyramids as previously described. These were diffuse increased renal echogenicity and hyperechoic echogenicity in the kidneys with the exception of the pyramids. This condition can be suspected early if nephrocalcinosis is present in a child with a history of polyhydramnios and premature delivery.

Childhood renal diseases in Saudi Arabia. A clinicopathological study of 167 cases.

Between April 1982 and September 1994, 167 renal biopsies were performed in 167 children at King Khalid University Hospital, Riyadh, Saudi Arabia. The data were analysed to show a correlation between clinical presentation and histological findings. Nephrotic syndrome was the most common indication for renal biopsy, accounting for 77% of all cases. Of these, 23.3% showed minimal change lesions, 24% showed mesangial proliferative glomerulonephritis and 24% showed focal segmental glomerulosclerosis. We noted a higher incidence of congenital nephrotic syndrome and Alport's syndrome as compared with the West. On the other hand, IgA nephropathy was less common (3%), and there was a complete absence of type II membranoproliferative glomerulonephritis.

Bone scintigraphy and densitometry in children with osteopetrosis.

Bone scintigraphy and dual x-ray absorptiometry were performed in 18 children (8 males, 10 females) with clinical and radiologic diagnoses of osteopetrosis in order to demonstrate the scintigraphic features of this rare disorder and to measure the bone mineral density. Their mean age was 9 years (range, 3-16 years). Bone scintigraphy demonstrated characteristic features of a widened metaphysis of all long bones that showed increased tracer uptake, particularly in the distal femur and proximal tibia. Dual x-ray absorptiometry of the lumbar spine, three femoral sites, and total body showed a marked increase in bone mineral density. The mean values for bone density of the lumbar spine and greater trochanter were markedly elevated than were other sites. Compared with a normal group matched for age and gender, the increase in bone mineral density was 181% for the lumbar spine and 193% for the greater trochanter. The authors concluded that bone imaging and bone densitometry are useful in establishing the diagnosis of osteopetrosis by demonstrating increase tracer uptake in the widened metaphysis and increased bone density. Bone densitometry may be of prognostic value in follow-up, especially in monitoring the response to therapy.

Nephrolithiasis in children and adolescents in the South Western region of saudi arabia.

We reviewed 71 cases of children and adolescents with nephrolithiasis over a 9 year period (1982-1991). The mean age was 12.3 years. The male: female ratio was 2.5:1. Twelve patients (16.9%) had bilateral stones. Fifteen patients (21%) had documented urinary tract infection. Escherichia coli was the most common organism growing in the urine cultures. Five patients had metabolic abnormalities and four had genitourinary developmental anomalies. Of the 45 calculi recovered for analysis, 17 (37.8%) were predominantly calcium oxalate, 14 (31.1%) were mixed calcium oxalate and uric acid stones, two (4.4%) were uric acid, two (4.4%) were calcium phosphate, two (4.4%) were cystine and eight (17.8%) were struvite stones. Four patients passed their stones spontaneously. Forty-eight underwent open surgery, with complete stone clearance in 45 patients. Two patients needed nephrectomy, seven had their stones removed by endourological procedures, nine patients were referred to other centers for extra corporeal shock wave lithotripsy, while two did not need any intervention. After the initial hospitalization, 57 patients continued follow up for a mean period of 3.3 years. Of them sixteen patients (28.1%) had recurrence of stone disease. We conclude that renal stone disease in children in our area was not uncommon. The majority were calcium oxalate stones. The clinical manifestations were not specific. Open surgery was needed in the majority of patients. Due to significant recurrence rate, long term follow-up was essential. Follow up by a pediatric nephrologists and/or urologist would be advisable.

Acute viral hepatitis, glucose-6-phosphate dehydrogenase deficiency and prolonged acute renal failure: a case report.

A 10-year-old boy with glucose-6-phosphate dehydrogenase deficiency developed acute renal failure during the icteric phase of non-fulminant hepatitis A infection. He needed peritoneal dialysis for 54 days. Acute tubular necrosis was confirmed by percutaneous renal biopsy. He had complete recovery of his renal function when he was discharged.

The aetiological and clinical pattern of childhood urolithiasis in Saudi Arabia.

The clinical and aetiological pattern in 85 stone-forming children presenting to an integrated nephrourological service in Riyadh is reviewed. All patients were below the age of 15 years, the male to female ratio being 2:1. Only 2 children presented with bladder calculi. The remaining all had upper tract stones and, in 12 cases, these were bilateral. Of 34 calculi recovered for analysis, one-third was predominantly calcium oxalate and a further third was composed of uric acid or urate. Four patients had cysteine stones and the remaining 7 presented mixed calcium stones, 6 (17.6%) being struvite and infection-related. Of the 85 patients 55 were treated successfully with extracorporeal shock wave lithotripsy, 16 underwent surgery and 7 had their stones removed by endourological procedures. In the remaining 7 children, stones dissolved or were passed spontaneously during medical therapy. Nine children (10.6%) showed a primary metabolic defect leading to their stone formation, 10 (11.8%) had a predisposing anatomical anomaly and 15 (17.6%) presented with urinary tract infection. Of the remaining 51 patients (60%) with idiopathic disease, 6 showed hypercalciuria on investigation and 2 children may have formed their stones due to prolonged recumbency.

Platelet Aggregometry - Dose-related Responses to Arachidonic Acid in Childhood Nephrotic Syndrome.

A recent unexpected finding of inhibited platelet aggregation in response to a single (1.64 mmol/l) dose of arachidonic acid (AA), during the relapse of childhood nephrosis, prompted us to assess aggregation in response to multiple doses of AA: 1.64,0.82,0.41,0.20 mmol/l, in two groups of children, in the relapse (n = 34) or remission (n=41) phase of nephrotic syndrome. During relapse: the highest dose of AA (1.64 mmol/l) evoked reversible and inhibited aggregation in 91% of patients. However, at the lower doses there were enhanced responses as measured by both maximum aggregation (%) and slopes of the aggregation curves. In contrast, during remission, irreversible aggregation was obtained at the highest AA dose, while at the lowest two doses (0.41 and 0.20 mmol/l), no aggregation responses were obtained in 4 (9%) and 7 (17%) patients respectively; in those who responded there was a long lag phase. Healthy controls (n = 21) exhibited their highest responses to 1.64 and 0.82 mmol/l AA and at the lowest AA doses (0.41 and 0.20 mmol/l), a total absence of responses was noted in 40% and 71% of samples respectively. We conclude that during relapse platelet sensitivity, as shown by irreversible aggregation in response to multiple AA doses, shifts towards the lower doses, when compared with healthy controls; while during remission responses fall in-between the relapse and control groups, indicating the maintenance of platelet sensitivity during this phase of nephrosis.

Growth hormone and IGF1 profile in short children with osteopetrosis.

Osteopetrosis is commonly associated with short stature. To identify the cause, 8 children with osteopetrosis and short stature were studied. One showed evidence of renal tubular acidosis, none showed evidence of anaemia, and all were clinically and biochemically euthyroid. Growth hormone profile was assessed using night sampling (8 patients), growth hormone provocative testing using insulin-induced hypoglycaemia (6 patients), and L-dopa-propranolol (8 patients). The mean nocturnal growth hormone values taken at 60 and 90 min after onset of sleep and at 4 a.m. were 5.5, 12.8, and 11.5 mu/L respectively. The peak stimulated growth hormone mean values with the insulin-induced hypoglycaemia (glucose 1.6-3.0 mmol/L, mean = 2.2) was 14 mu/L (range 7.3-24.5 mu/L) and with the L-dopa-propranolol was 25.6 mu/L (range 12.3-49 mu/L). IGF1 levels taken at 0 and 120 min of insulin-induced hypoglycaemia (0 min for L-dopa-propranolol), and at 120 min of L-dopa-propranolol, showed normal values for age. We conclude that: (1) growth hormone profiles in these children are normal; (2) tissue unresponsiveness to growth hormone and/or IGF1 is not likely to be the cause of short stature in children with osteopetrosis; and (3) osteopetrosis per se is not an indication for assessment of growth hormone status.