Three different causes of hypercalciuria.

Hypercalciuria is defined as urinary calcium excretion ≥0.1 mmol/kg/24 h, and can be a result of various disease states. The most frequent clinical signs of hypercalciuria include hematuria, abdominal pain, urolithiasis, nephrocalcinosis, dysuria, enuresis, and urinary tract infection. 3 case reports of children with hypercalciuria of different origin are presented, with final diagnoses of (1)idiopathic hypercalciuria, (2)familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC), and (3)metabolic bone disease of prematurity, respectively. Assessment of hypercalciuria is essential in all children with urolithiasis and nephrocalcinosis, or demineralization of bone. It should be also a part of differential diagnostic procedure in hematuria, recurrent abdominal pain, urinary tract infection and enuresis in childhood.

Safety profile of paediatric percutaneous ultrasonography-guided renal biopsies.

INTRODUCTION: Renal biopsy (RB) is a decisive diagnostic procedure for patients with renal disease. Our aim was to assess the safety of RB and the prevalence of associated clinical complications. METHODS: A total of 166 RBs were performed in 164 children (88 boys, 76 girls) in East Bohemia in 1997-2007. The mean age of the children was 12.9 +/- 4.1 years. All RBs were performed by a single consultant nephrologist. 27 biopsies were performed in 27 patients (16.3 percent) in 1997 under radiography control, while the remaining 139 biopsies (83.7 percent) were performed under ultrasonographic guidance. Renal ultrasonography (USG) following RB was not a general rule in patients who were biopsied under radiography control before 1998; therefore, only the USG results in patients after USG-guided RB (n = 139) were evaluated. RESULTS: No major complications were encountered, and only minor complications occurred in 39 (23.5 percent) patients, which did not require medical intervention. The most common complication was asymptomatic perirenal haematoma, which was detected by USG one to three days after a USG-guided RB (30 out of 139 biopsies; 21.6 percent). Perirenal haematoma accompanied by abdominal pain occurred in two (1.4 percent) patients. Macroscopic haematuria was present in seven (4.2 percent) patients on Days 1-3 post biopsy. The complications were neither age-dependent nor were they related to the serum creatinine levels. CONCLUSION: The results obtained are consistent with those in other reports of paediatric patients. The absence of major complications is a favourable outcome. Thus, the present practice of USG-guided percutaneous RB in children is safe and clinically beneficial.

Renal biopsy in children with steroid-dependent nephrotic syndrome.

BACKGROUND: There is lack of consensus on the necessity of renal biopsy in children with steroid-dependent nephrotic syndrome (SDNS) prior to cytotoxic therapy. OBJECTIVES: To retrospectively evaluate: (a) the benefit of renal biopsy (RB) prior to cyclophosphamide therapy; (b) relationship between histopathologic results of RB samples and clinical course in children with SDNS. PATIENTS, MATERIALS AND METHODS: RB was performed in 18 SDNS patients (11 boys and 7 girls). The mean age of the children at the time of nephrotic syndrome (NS) diagnosis was 6.4 +/- 3.9 years and 9.7 +/- 4.3 years at the time of RB. Following the RB, all children received prednisone and cyclophosphamide treatment for 12 weeks. Duration of remission and relapse rate was recorded. RESULTS: The histologic evaluation revealed minimal change disease (MCD; n = 14) and IgM nephropathy (n = 4). These results didn't affect the ongoing therapy. MCD patients had longer remission compared to IgM nephropathy (3.2 +/- 1.5 vs 1.7 +/- 0.8 years; p = 0.05). Relapse rate did not differ significantly between MCD and IgM nephropathy (p = 0.22). The duration of remission was inversely correlated to relapse rate after the treatment (r = -0.66, p = 0.01). CONCLUSION: We suggest that RB prior to cyclophosphamide therapy is not necessary in patients with SDNS (Tab. 2, Ref. 14). Full Text (Free, PDF) www.bmj.sk.

Urinary N-acetyl-beta-D-glucosaminidase (U-NAG) activity in children with vesicoureteral reflux.

OBJECTIVES: The aim of this study was to measure U-NAG in children with vesicoureteral reflux (VUR) and examine the relationship between selected clinical parameters. BACKGROUND: U-NAG/creatinine ratio is a marker of renal tubular impairment and an increase in this ratio have been reported to affect the kidneys in various diseases. METHODS: The U-NAG/creatinine ratio was measured in the spot urine of 22 children (10 boys and 12 girls, mean age 2.83 +/- 2.42 years) with VUR. In 8 patients The VUR was unilateral grade I-IV (8 patients), and it was was bilateral, grade I-V in 14 patients. In patients with bilateral reflux and different VUR grade on each side, the highest grade of VUR was taken into consideration. RESULTS: The U-NAG/Cr levels were significantly higher in VUR patients compared to the reference (p = 0.0001). There was no difference in U-NAG/Cr between children with unilateral (n = 8) and bilateral (n = 14) VUR (p = 0.66). There was no difference in U-NAG/Cr between patients with VUR grades I-III and IV-V (p = 0.67). The U-NAG/Cr activity was higher in patients with reflux nephropathy (RN; n = 9) when compared to reference data (p = 0.0001), however there was no difference in comparison to children without RN (p = 0.84). CONCLUSIONS: U-NAG/Cr increased in children with VUR grade I-V and there is a very weak relationship with the grade of VUR. U-NAG/Cr is a useful marker of renal tubular impairment, however there is poor relationship with the degree of kidney damage in patients with VUR (Tab. 1, Ref. 25). Full Text (Free, PDF) www.bmj.sk.

Hypokalaemic Paralysis Revealing Sjogren's Syndrome in a 16-Year Old Girl.

A 16-year old girl presented with rapid onset of muscular weakness and a history of severe dysphagia, dysphonia and significant wasting. On examination, she was dystrophic (BMI 15.7) and had signs of myopathy. Laboratory findings confirmed myopathy (CPK 106.4 microkat/L (6384 IU/L), AST 2.86 microkat/L (171.6 IU/L), myoglobin 1582 microg/L). There was profound hypokalaemia (S-K 1.8 mmol/L) suggesting hypokalaemic paralysis. Diagnosis of distal renal tubular acidosis (dRTA) was based on combination of hyperchloremic metabolic acidosis, severe hypokalaemia, high urinary pH and positive value of urinary anion gap. There was evidence of other signs of renal tubular impairment (urinary beta-2-microglobulin 213 mg/L, glomerulotubular proteinuria 1.01g/24h). Autoimmune tests (rheumatoid factor, antinuclear antibodies, autoantibodies to Ro/SSA and La/SSB) together with symptoms of xerostomia with swallowing difficulties and atrophic glossitis suggested primary Sjogren's syndrome (SS) as the underlying cause of dRTA. The renal biopsy confirmed chronic tubulo-interstitial nephritis compatible with this diagnosis. Full recovery of muscle weakness and hypokalaemia and acidosis followed after potassium and alkali replacement therapy. Corticosteroids were administered with subsequent addition of cyclosporine A because of disease activity. In conclusion, primary SS is a rare diagnosis in childhood and adolescence and should be considered in patients presenting with hypokalaemic paralysis, as this might be due to dRTA, even in the absence of apparent sicca syndrome.

Intracardiac thrombus--a rare complication of the steroid resistant nephrotic syndrome.

BACKGROUND: An intracardiac thrombus is extremely rare in children with the nephrotic syndrome (NS). OBJECTIVES: To present a case report of a child with steroid resistant NS and intracardiac thrombus. METHODS AND RESULTS: A 3.5-year-old boy with the first attack of steroid resistant NS was admitted to the hospital. A histological evaluation of the renal biopsy specimen revealed the minimal changes disease (MCD). There were no mutations in the podocin gene. The treatment with furosemide, albumin, prednisone, metylprednisolone, cyclophosphamide, enalapril and losartan was ineffective, as the intermittent oedema, proteinuria, hypoalbuminemia and hypercholesterolemia were still present. 8 weeks after the disease onset, the sinus tachycardia occurred and the echocardiography revealed a thrombus in the right ventricle, which had gradually proceeded to the pulmonary artery bifurcation. The thrombolysis with 40 mg of alteplase was initiated. Two hours after the alteplase application, the thrombus was not detectable. The mutational analysis of factors V, II and MFTHR genes were negative. The repeated echocardiography performed after 1 week, 2 and 6 months, respectively, revealed a normal cardiac function and morphology. The patient received prophylactic doses of fraxiparin for 3.5 months followed by warfarin. A remission of the nephrotic syndrome was achieved with high doses of cyclosporine A together with atorvastatin at 7 month after the disease onset. CONCLUSION: The thromboembolism as a result of the hypercoagulation status is a serious complication of the nephrotic syndrome. The intracardiac localisation of thrombus is extremely rare (Fig. 2, Ref. 10). Full Text (Free, PDF) www.bmj.sk.

The urofacial (Ochoa) syndrome--first case in the central European population.

The urofacial (Ochoa) syndrome (UFS) is a very rare autosomal recessive disorder characterized by abnormal facial expression and urinary abnormalities. Patients with this syndrome have urinary tract infection, hydronephrosis, hydroureter and voiding dysfunctions resulting from neurogenic bladder, together with a peculiar inverted facial expression, mainly when smiling or crying. This syndrome has been so far observed in Colombia, USA, France and Spain. We report the first case of Ochoa syndrome in the central European population.

Genetic variants of transferrin in the diagnosis of protein hypoglycosylation.

Human transferrin (Tf) shows genetic polymorphisms, which may interfere in the screening of congenital disorders of glycosylation (CDG). Isoelectric focusing followed by direct immunofixation was used for Tf analysis in controls and several groups of patients. Equivocal results in one case have been recognized as a rare Tf CD variant. A higher incidence of some genetic variants has been reported in connection with certain diseases; of the seven Tf phenotypes detected in our set of samples, an apparently higher frequency of Tf C1C2 variant found in some groups of patients was not significant.