Retrospective analysis of clinical and pathomorphological features of lupus nephritis in children.

PURPOSE: The aim of the study was to evaluate the clinical course and pathomorphological correlations in Polish children with the diagnosis of lupus nephritis (LN). METHODS: We retrospectively analyzed the medical records of 39 children hospitalized due to LN in 7 pediatric nephrology units in Poland between 2010 and 2019. Demographic data, clinical symptoms at the onset of LN and laboratory parameters were reviewed. We analyzed Systemic Lupus Erythematosus Disease Activity Index (SLEDAI), histological LN findings with the activity (IA) and chronicity index (IC). RESULTS: We examined 32 girls and 7 boys, median age at LN onset was 14.75 (IQR 13.0-16.0) years, SLEDAI of 22.0 (IQR 18.0-27.0) points; LN histological class: IV (59.4%), III (18.9%), III/V (10.8%), IV/V (8.1%), VI (2.7%); IA 8.0 (IQR 6.0-11.0) points, IC 1.05 (IQR 0-2.0) points. Children with nephrotic (n â€‹= â€‹22) and non-nephrotic (n â€‹= â€‹17) proteinuria differed in median Hb level (9.55, IQR 8.3-11.2 vs 10.9, IQR 10.1-11.6 â€‹g/L; P â€‹< â€‹0.05), albumin level (2.5, IQR 2.1-3.19 vs 3.6, IQR 3.4-4.1 â€‹g/dL; P â€‹< â€‹0.001), proteinuria (5.76, IQR 3.0-7.5 vs 1.08, IQR 0.53-1.50 â€‹g/day; P â€‹< â€‹0.0001), eGFR (53.9, IQR 27.0-68.8 vs 96.7, IQR 73.8-106.2 â€‹mL/min/1.73 â€‹m2; P â€‹< â€‹0.01) and occurrence of hypertension (77% vs 23%; P â€‹< â€‹0.01). In multivariate analysis Hb level (ߠ​= â€‹8.0; 95%CI, 1.90-14.11) was the significant predictor of eGFR<90 â€‹mL/min/1.73 â€‹m2. CONCLUSIONS: Proliferative forms of LN in children may have a varying clinical presentation. Children with LN with nephrotic range proteinuria have lower Hb level, lower eGFR and higher occurrence of hypertension. Hb level is the significant predictor of eGFR<90 â€‹mL/min/1.73 â€‹m2 in children with LN.

Mild X-linked Alport syndrome due to the COL4A5 G624D variant originating in the Middle Ages is predominant in Central/East Europe and causes kidney failure in midlife.

A study of 269 children enrolled into a National Registry for children with persistent glomerular hematuria identified 131 individuals with genetically confirmed X-linked Alport Syndrome. A single variant c.1871G>A p.Gly624Asp (G624D) in COL4A5 was predominant and accounted for 39% of X-linked Alport Syndrome in unrelated Polish families (44 of 113). To evaluate its origins, the genetic variation in a 2.79 Mb segment encompassing the COL4A5 locus on chromosome X was assessed. All G624D alleles were found on the same rare haplotype background, indicating a founder effect dating back to the 12-13th century. The phenotypic data of 131 children with X-linked Alport Syndrome and their 195 affected adult relatives revealed that the G624D variant was associated with a significantly milder clinical course in comparison to other pathogenic COL4A5 variants. Furthermore the clinical course of this genetically uniform cohort was milder than that observed in individuals with other COL4A5 missense mutations. In spite of the benign clinical manifestation throughout childhood and early adulthood, the G624D variant confers significant risk for both kidney failure and deafness in males, albeit 20-30 years later than that observed in individuals with other COL4A5 pathogenic variants (50% cumulative risk of starting dialysis at 54 years (95% confidence interval: 50-62) v. 26 years (95% confidence interval: 22-30)). Thus, males with G624D are candidates for existing and emerging therapies for Alport Syndrome.

Nephrocalcinosis in adolescent girl with medullary sponge kidney and mild hemihypertrophy: A case report.

RATIONALE: Medullary sponge kidney (MSK) is a rare congenital abnormality characterized by cystic dilatation of the medullary collecting tubules. The disorder is likely to be complicated by nephrocalcinosis, urolithiasis, tubular dysfunctions, and urinary tract infections. In addition, it may be rarely associated with extrarenal anomalies. PATIENT CONCERN: We present a case of 17-year old girl who was referred for metabolic evaluation of bilateral nephrocalcinosis. Physical examination showed signs of mild, left-sided hemihypertrophy involving the lower limb, buttock, trunk, face, and tongue. The imaging studies of kidneys including intravenous urography and contrast computed tomography showed numerous medullary calcification and a typical picture of MSK-"paint brush"/"bouquet of flowers" appearance of the dilated tubules within the renal medulla. Laboratory evaluation revealed sterile pyuria, hypercalciuria, and hypocitraturia. INTERVENTION: The patient was subsequently treated with potassium citrate, hydrochlorothiazide, low sodium and low oxalate diet accompanied by high fluid intake. OUTCOMES: After a 1-year therapy the normalization of calciuria and citraturia occurred and no progression of nephrocalcinosis was observed. LESSONS: We conclude that MSK should always be considered as a cause of nephrocalcinosis. Since the final diagnosis requires specific imaging techniques, the concomitant extrarenal abnormalities such as hemihypertrophy may facilitate diagnostic decisions.

[Recurrent urolithiasis as a symptom of primary hyperparathyroidism in a 16-year-old boy]. / Nawracajaca kamica ukladu moczowego jako objaw pierwotnej nadczynnosci przytarczyc u 16-letniego chlopca.

Primary hyperparathyroidism is one of the most common endocrine diseases, however, it is rare in children. In most cases, it is caused by adenoma of these organs. Its most common complications include urolithiasis, nephrocalcinosis and osteoporosis. CASE REPORT: A 16-year-old patient was admitted to our Clinic because of his first-ever renal colic. The ultrasound examination revealed rightsided hydronephrosis caused by the presence of 9 mm stone in the upper part of the right ureter. In addition, the presence of 8 mm stone in the middle calyx of the left kidney was found. Due to the clinical picture, the patient was transferred to the urological department, where the effective ureterorenoscopic lithotripsy (URSL) was performed. Subsequent metabolic diagnostics showed hypercalcemia, hypophosphatemia, elevated levels of parathyroid hormone and hypercalciuria. In addition, the medical history revealed complicated, prolonged healing of a traumatic fracture of both bones of the left forearm in the last 12 months, requiring orthopedic treatment. Due to suspicion of primary hyperparathyroidism, parathyroid scintigraphy with MIBI scan by SPECT/ CT was performed. It revealed a focal lesion that could correspond to adenoma. The patient was referred to endocrinological care, but after 2 months he was readmitted to our Clinic, this time due to left renal colic. A left-sided ureteral stone was identified, which required another urological procedure. CONCLUSIONS: In differential diagnosis of urolithiasis in children, primary hyperparathyroidism should also be considered.

Early Markers of Tubulointerstitial Fibrosis in Children With Idiopathic Nephrotic Syndrome: Preliminary Report.

UNLABELLED: Tubulointerstitial fibrosis and tubular atrophy play a crucial role in the pathogenesis of chronic kidney disease (CKD). They are also major determinants in chronic kidney disease development and progression in patients with primary renal diseases characterized by persistent or recurrent proteinuria. The purpose of the study was to assess urinary excretion of alpha-glutathione S-transferase (alpha-GST), pi-glutathione S-transferase (pi-GST), neutrophil gelatinase-associated lipocalin (NGAL), kidney injury molecule-1 (KIM-1), and serum NGAL level in children with idiopathic nephrotic syndrome (INS). PATIENTS AND METHODS: the study group comprised of 39 children with INS and the control group consisted of 20 healthy children. A total of 23 patients were affected with steroid-dependent nephrotic syndrome (SDNS) and 16 with steroid-resistant nephrotic syndrome (SRNS). In the majority of patients, a histopathologic examination revealed minimal change disease (MCD)-25 (64%). Focal segmental glomerulosclerosis (FSGS), mesangioproliferative glomerulonephritis (MesPGN), membranoproliferative glomerulonephritis (MPGN), and membranous glomerulonephritis (MGN) were diagnosed in 4 (10.3 %), 6 (15.5%), 2 (5.1%), and 2 (5.1%) children, respectively. Urinary alpha-GST, urinary pi-GST, urinary KIM-1, and urinary and serum NGAL concentrations were measured using specific enzyme-linked immunosorbent assay. The urinary results were expressed in nanograms per milligram of creatinine (ng/mg). RESULTS: The authors observed significantly higher levels of urinary alpha-GST/creatinine ratio (P = 0.03), urinary KIM-1/creatinine ratio (P < 0.02), serum NGAL level (P < 0.01), and urinary NGAL/creatinine ratio (P = 0.02) in children with INS compared with controls. The median values of urinary pi-GST/creatinine ratio in children with INS and controls did not differ significantly. In children with SRNS, the median values of urinary NGAL/creatinine ratio (P = 0.02) and urinary KIM-1/creatinine ratio (P = 0.02) were significantly higher compared with children with SDNS. The authors noted significant positive correlation between KIM-1/creatinine ratio and proteinuria (r = 0.56, P < 0.05). The analysis of alpha-GST/creatinine ratio, pi-GST/creatinine ratio, sNGAL, and uNGAL/creatinine ratio concerning the histopathologic examination, the duration of the disease, and number of relapses did not show any significant differences. CONCLUSIONS: 1. Both children with SDNS and those with SRNS were characterized by increased tubular injury marker levels. 2. Patients with SRNS and higher proteinuria are more susceptible to early kidney damage.

[Treatment of first incidences of urolithiasis in children]. / Leczenie pierwszych epizodów kamicy ukladu moczowego u dzieci w materiale wlasnym.

Unlike adults urolithiasis in children is a rare disease. For this reason medical treatment in this age group is still a serious therapeutic challenge. The aim of the study was to analyze the results of the applied treatment in the first incidences of urinary stones disease. A group of 143 patients aged 1.5 to 17 years was enrolled in this study. Spontaneous stone passage was obtained in case of 65 patients, which amounts to 63% of patients, who received conservative treatment. 17% were qualified to the ESWL treatment, 5.6% underwent the URS procedure, and in 2.8% of patients open surgery was performed. In 29% of cases stones were left for further observation. Conservative therapy was effective in the majority of children with small urinary stones. Preferred treatment in remaining patients were minimally invasive urological procedures.

[Urodynamic disturbances among children with vesico-ureteral reflux (VUR)]. / Odchylenia w badaniach urodynamicznych u dzieci z odplywem pecherzowo-moczowodowym (OPM).

UNLABELLED: Lower urinary tract dysfunction plays significant role in patogenesis of vesicoureteral reflux (VUR). Thus, urodynamic assessment is very useful in diagnosis and treatment of VUR. AIM: Assessment of the incidence of urodynamic disturbances among children with VUR. MATERIAL AND METHODS: Retrospective assessment of 125 children with VUR including 93 assessed urodymically. RESULTS: Urodynamic disturbances were found in 58 patients (70.9% of examined children), of which--detrussor hyperactivity in 25 (43.1% of children with urodynamic disturbances), detrussor hyperactivity with subvesical obstruction or dysfunctional voiding in 6 (10.3%), dysfunctional voiding in 17 (29.3%), anatomical subvesical obstruction in 9 (15.5%), detrussor hypotony in 1 (1.7%). No disturbances were found in 27 (29.1% of examined children). Children with detrussor overactivity were the prevalent group among all children with lower urinary tract dysfunction. CONCLUSIONS: Children with lower urinary tract dysfunction constitute a significant part of children with VUR.

[Coexistence of nephrocalcinosis and renal failure in children--own experiences]. / Wspólistnienie nefrokalcynozy i niewydolnosci nerek u dzieci--doswiadczenia wlasne.

UNLABELLED: Nephrocalcinosis (NC) is defined by increased calcium content of the kidney. To be identified radiologically it must be substantially gross accumulation of calcium within renal tissue. The incidence of NC in children is very low. The main causes of NC are hypercalcemic states with hypercalciuria and various tubular disorders. Although renal calcification may induce interstitial and tubular damage, NC is relatively rare associated with renal failure. We present three children with such an association. In those patients, primary distal tubular acidosis, hyperoxaluria type I and familial hypomagnesemia with hypercalciuria and nephrocalcinosis were diagnosed. The former two patients developed terminal renal failure in the school age whereas in the latter one, only moderate renal insufficiency was observed. CONCLUSIONS: The coexistence of nephrocalcinosis and renal failure is caused by extremely rare metabolic disorders. Therefore, this condition requires careful examinations.

[Malformations of urinary system in our series of children--treatment approaches]. / Wady ukladu moczowego w materiale wlasnym--postepowanie terapeutyczne.

The purpose of the study was to analyze treatment approaches in children with malformations of urinary system. The retrospective study comprised 557 children (196 boys and 361 girls) aged 1-18 years with malformations of urinary system hospitalized in 2000-2007 in the Department of Pediatric Nephrology, University Children's Hospital, Lublin. Primary and secondary vesicoureteral reflux (269 children), ureteral obstruction (102 children), urethral obstruction (91 children) and renal duplication (83 children) were the most common malformations observed. In 26 children, multiple urinary system malformations were diagnosed. 332 children required surgery including 113 with vesicoureteral reflux. However, in the majority of children with vesicoureteral reflux, on an average 18-month pharmacologic treatment resulted in complete recovery.

[The diagnosis of familial hypomagnesemia with hypercalciuria and nephrocalcinosis in a girl with acute lymphoblastic leukemia--case report]. / Rozpoznanie rodzinnej hipomagnezemii z hiperkalciuria i nefrokalcynoza u dziewczynki chorej na ostra bialaczke limfoblastyczna--opis przypadku.

Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a rare autosomal recessive tubulopathy resulting from mutation in the gene encoding paracelin 1. The main symptoms of FHHNC include excessive urinary calcium and magnesium excretion, nephrocalcinosis, and chronic renal failure. We present 16-year old girl in whom symptoms of FHHNC were accidentally recognized during therapy of acute lymphoblastic leukemia. In our patient, some symptoms of FHHNC were initially taken for the adverse effects of cytostatic therapy that delayed an adequate diagnosis. To the best of our knowledge, this is the first report of FHHNC associated with acute lymphoblastic leukemia. However, in our opinion this association is accidental.

[Ten-year experience in renal replacement therapy in children. A report from Dialysis Center, Department of Pediatric Nephrology, Children's University Hospital in Lublin]. / Jak dializujemy dzieci ze schylkowa niewydolnoscia nerek w ciagu dziesiecioletniej dzialalnosci Stacji Dializ Kliniki Nefrologii Dzieciecej AM w Lublinie.

Since January 26th of 1996, when our center was established, 34 children (19 boys and 15 girls) with end-stage renal disease (ESRD) were treated with renal replacement therapy. Maintenance hemodialysis (HD) and peritoneal dialysis (PO) were received by 28 and 6 patients, respectively. In our patients, the most common cause of ESRD were congenital urinary system malformations (61.7%) and glomerulonephritides (20.6%). Duration of renal replace-ment therapy varied from 6 months to 8 years. In 71.5% of children on HD, vascular access was established by arteriovenous fistula, and in the remaining--by permanent venous catheter. Adequacy of renal replacement therapy was estimated by Kt/V ratio. In patients on HD and PO, Kt/V ratios were 1.27 and 1.9 per 7 days, respectively. In 82.4% of patients, pre-dialysis arterial hypertension was observed. During renal replacement therapy arterial hypertension was diagnosed in 73.5% of children. Anemia resulting from ESRD was treated with recombinant human erythropoietin and erythropoietic medicines. In all children, recommended hemoglobin and hematocrit levels were achieved. In our patients, parameters of calcium and phosphate handling were also monitored. The mean serum intact parathormone levels in HD and PO children were 304 pg/ml and 302.2 pg/ml, respectively. We also summarized the occurrence of hepatotropic viral infections and endocrine disturbances including hypothyreosis and short stature in our patients. 3 children died due to ESRD complication. 22 (64,7%) children received cadaver-donor renal transplants.

[Incidence of urinary system malformations in children with the nephrotic syndrome]. / Ocena czestosci wystepowania wad ukladu moczowego u dzieci z zespolem nerczycowym.

The purposes of the study were a) to assess the incidence of urinary system malformations in children with the nephrotic syndrome (NS) and b) to estimate their effect on clinical course of the NS. A retrospective analysis comprised medical records of patients aged 2-18 years hospitalized in the Department of Pediatric Nephrology, University Children's Hospital, Lublin. Urinary tract infections (UTI) occurred in 28% of children with the NS. Imaging evaluation revealed urinary system malformations in 21.2% of children with the NS and UTI. Urinary system malformations constituted 5.9% of all children hospitalized because of the NS. Urinary system malformations included vesico-ureteral reflux (42.8%), renal duplication (28.6%), renal agenesis (14.3%) and diverticulum of the bladder (14.3%). In 48% of children with the NS and urinary system malformations, frequent recurrences of the syndrome were observed.

Diagnostic difficulties in the differentiation of urine retention and developmental anomalies in the pelvicalyceal system in the ultrasound examination of children.

Ultrasound examination of the abdominal cavity is part of the baseline diagnostics of urinary tract diseases. Dilatation of the pelvicalyceal system is one of the most frequent findings. In ultrasonography of the urinary tract there are, however, some images of anatomical anomalies of the pelvicalyceal system which should not be consider as abnormal. In the study we analysed 920 ultrasound examinations of the urinary tract. Of all the ultrasound images only those with isolated dilatation of the renal pelvises and calices were selected (130 cases). Ampulla-shaped and/or external pelvises, isolated calices or both abnormalities were disclosed in 104, 46 and 20 cases, respectively. In about one-third of patients additional examinations (voiding cystography, intravenous urography, renal scyntygraphy) were performed which revealed normal anatomy of the urinary tract and disorders of urine flow in 80% and 20% of patients, respectively. In conclusion, the study implies that not all dilatation of the pelvicalyceal system structures signifies urine retention, although in the event of further doubt, there is a need for additional diagnostics.

Effect of topiramate on mechanical allodynia in neuropathic pain model in rats.

Topiramate, unlike gabapentin, lamotrigine and tiagabine, resembles phenytoin and carbamazepine since it had been used as an antinociceptive drug in empirical treatment of neuropathic pain in humans, before its systemic and planned research was conducted in animal models of pain. Chronic administration of topiramate, at the dose of 50 mg/kg/day, significantly diminished the mechanical sensitivity and shortened the period of allodynia in the Seltzer mononeuropathy model in rats.

Dopamine activity changes in cerebral cortex in the course of experimental acute pancreatitis.

UNLABELLED: Dopamine (DA) is biogenic amine that in the central (CNS) and peripheral nervous system plays an important role as a neurotransmitter and neuromediator. Dopamine neurones in CNS are responsible for regulating motor and emotional processes, higher psychological activities and hormone secretion. Acute pancreatitis (AP) is a general disease condition caused by pancreas extrasecretory cell damage which leads to self-digestion. One of its results is encephalopathy in consequence of shock symptoms, intravascular clotting, brain tissue ischaemia etc. The study has aimed at analysis of changes in the level of DA in rats' cerebral cortex in the course of experimental AP. The experiment was carried out on 102 rats. They were divided into three groups: Z - healthy (12), K - control (30), OP - experimental (60). The AP was induced in OP group according to Heinkel and Aho method. In K group the needle was only inserted into the common bile-pancreatic duct to analyse the effects of mechanical damage. The activity of pancreatic enzymes was determined to estimate the intensity of pancreatitis. The dopamine level was measured in rats << brain samples and to do so, the Brodie method modified by Chang was used. The statistical analysis was carried out. CONCLUSIONS: The greatest changes of DA level during experimental AP were noticed during the first 24 hours of experiment and they were in statistically significant way correlated with the level of lipase and amylase in blood serum. Peak DA concentration was detected between 6th and 12th hour of experiment.

Mammary gland anatomy and the role of mammography and ultrasonography in the early diagnostics of breast cancer. A case report.

Progress in imaging techniques has brought a solution to the problem of the early diagnosis of breast cancer. An interesting case of breast cancer is presented here, pictures of the malignant tumour are demonstrated and the usefulness of new diagnostic methods analysed. The presentation of this case may contribute to greater effectiveness in early breast cancer detection.