IgA nephropathy (IgAN) is the most common glomerulonephritis worldwide. It is diagnosed based on clinical and histological features including predominant IgA deposits in kidney biopsy. The multi-hit ...theory, based on the production of GDIgA1 and anti-GDIgA1 antibodies, and complement activation via alternative and lectin pathways and also a genetic tendency are crucial in the pathogenesis of IgAN. The aim of the present review is to summarize the utility of routine diagnostic tests in IgA nephropathy, such as IgA and C3 in serum and kidney biopsy specimens, for predicting the disease progression. The paper also contains data on new markers used in the diagnosis and prognosis of IgA nephropathy.
Steroid resistance is a common condition occurring in children with nephrotic syndrome. Until now, over 50 genes involved in steroid-resistant nephrotic syndrome (SRNS) pathogenesis have been ...identified, among which the most prevalent are NPHS1, NPHS2, CD2AP, and PTPRO. The patterns of inheritance of SRNS are autosomal recessive, autosomal dominant, or mitochondrial, and tissues of those patients show focal segmental glomerulosclerosis (FSGS) signs in histopathological image analysis.
We present a case of a 6-year-old girl who was admitted to the pediatric nephrology department due to nephrotic range proteinuria and edema of the lower leg.
We started therapy with prednisone at a dose of 45 mg (60 mg/m
2
), enalapril as a nephroprotection, and antihistamines as an additional treatment. During in-patient treatment, we detected increased blood pressure. Due to persistent proteinuria in spite of 6-week treatment with steroids at the maximal dose, we confirmed disease resistance to steroids. Additionally, FSGS signs were confirmed in kidney biopsy samples. After genetic screening for SRNS and detection of the rare gene mutation NUP93 we reduced prednisone but maintained nephroprotective treatment and administered cyclosporin A. The girl remains currently under the care of nephrologists with normal arterial blood pressure, trace proteinuria in follow-up examination, and normal kidney function.
NUP93 mutation is extremely rare; therefore few cases have been described to date. The onset of the symptoms in all pediatric patients appeared before the age of 8 and they developed end stage kidney disease (ESKD). They might manifest symptoms from the other systems.
Background
The aim of this study was to evaluate the usefulness of serum immunoglobulin A/complement factor 3 (IgA/C3) ratio for predicting histological severity of kidney lesions in children with ...IgA nephropathy (IgAN) based on World Health Organization (WHO) and the Oxford classification (OC).
Methods
We studied 89 children with IgAN with a mean age of 11.38 ± 4.1 years (range 2–18 years). Based on available medical records, we retrospectively evaluated clinical data, IgA/C3 ratio, and kidney biopsy findings using the five-grade WHO classification and the OC The mesangial hypercellularity (M), endocapillary hypercellularity (E), segmental sclerosis (S), tubular atrophy/interstitial fibrosis (T) (MEST) score (absent = 0, present = 1) calculated as the sum of M+E+S+T ranging from 0 to 4.
Results
Mean IgA/C3 ratio values were significantly higher (
P
< 0.05) in patients with M1, S1, and T1 compared with M0, S0, and T0, respectively (
P
< 0.05); there were no differences in the WHO classification. We found a significant positive correlation between the IgA/C3 ratio and proteinuria (
r
= 0.24) and determined optimal cutoff values of the IgA/C3 ratio, with a corresponding confidence interval for specific MEST scores.
Conclusions
The IgA/C3 ratio in children with IgAN may be a useful marker of the severity of lesions found in kidney biopsy as evaluated using the OC.
Evaluation of mean blood pressure values, ambulatory arterial stiffness index (AASI), pulse pressure (PP), blood pressure variability (BPV), and circadian blood pressure rhythm using ambulatory blood ...pressure monitoring (ABPM) in children with IgA nephropathy and Henoch-Schönlein nephropathy (IgAN/HSN).
In 48 children (29 with IgAN, 19 with HSN) aged 14.04 ± 3.76 years, we evaluated retrospectively 24-hour systolic and diastolic BP (24hSBP, 24hDBP), AASI, PP, systolic and diastolic BPV, and nocturnal BP dip by ABPM, body mass index (BMI) Z-score, medications, and biochemical parameters. The control group (CG) consisted of 20 healthy children aged 13.36 ± 4.12 years.
AASI was 0.369 ± 0.100 in IgAN, 0.346 ± 0.148 in HSN, and 0.300 ± 0.067 in the CG; AASI was significantly (p = 0.009) higher in IgAN vs. CG. PP was higher (P = 0.04) in IgAN vs. HSN. Based on ABPM data, poorly-controlled hypertension was found in 14 of 22 patients (63.6%) with previously diagnosed hypertension. No differences in BPV or nocturnal BP dip were found between the groups. In all children with IgAN/HSN, 24hDBP correlated significantly with proteinuria, cholesterol, triglycerides, and prednisone dose; BMI Z-score correlated with SBPV, DBPV, and PP.
1. Children with IgAN have higher arterial stiffness compared to healthy peers. 2. In children with IgAN/HSN, proteinuria and hyperlipidemia are risk factors for elevated diastolic blood pressure, while obesity is a risk factor for increased blood pressure variability and pulse pressure. 3. Pediatric patients with IgAN/HSN require regular ABPM evaluation to allow for early detection of poor pharmacological control of hypertension. .
Immunoglobulin A nephropathy (IgAN) may lead to end stage renal disease and severely affect patient functioning and wellbeing. The aim of the study was to evaluate health-related quality of life ...(HRQoL) in children and adolescents with IgAN, and compare HRQoL in relation to the disease course, social status and psychological factors, such as expressing anger and perceived personal competence.
The multicentre cross-sectional study included 51 patients ≥ 8 years from 7 paediatric nephrology centres in Poland. Psychometric analysis was performed using the Kidscreen-52 questionnaire to evaluate HRQoL, the Anger Expression Scale to evaluate the severity of anger and the Personal Competence Scale to measure general perception of personal competence.
Mean age of patients was 14.54 ±3.69 years; duration since the diagnosis of IgAN was 4.98 ±3.9 years. Patients with IgAN rated their psychological wellbeing as significantly worse compared to healthy peers (
< 0.05). The presence of proteinuria was associated with significantly worse physical wellbeing (58.72 ±18.45 vs. 74.44 ±22.97;
< 0.05). Current therapy (steroids/immunosuppressive drugs) had no effect on HRQoL in the study group. Perceived personal competence was rated high by 49% of children in the study group. Children with IgAN were characterized by lower intensity of expressed anger (
< 0.001) and significantly higher intensity of suppressed anger (
< 0.01) compared to reference ranges. Severity of expressed anger correlated positively with the parent relations and school environment dimensions of HRQoL.
We found lower HRQoL in regard to physical and psychological wellbeing in a group of Polish children with IgAN compared to healthy peers. HRQoL should be monitored in this patient group.
Dent disease (DD) is a rare X-linked tubulopathy characterized by a proximal tubular dysfunction leading to nephrocalcinosis/nephrolithiasis and progressive renal failure. The disease is associated ...with a mutation either in CLCN5 or OCRL genes. We aim to define clinical and genetic disease characteristics and summarize treatments of Polish patients with DD.
The study cohort consists of 10 boys (aged 5 - 16.5 years) whose data were collected through POLtube Registry.
All of the patients had tubular proteinuria, hypercalciuria, and nephrocalcinosis/nephrolithiasis. Renal impairment and growth deficiency were found in 3 patients and rickets in 2 patients. In total, 9 of 10 patients carried a mutation in the CLCN5 gene. Five of 9 detected mutations were novel. In 1 patient with a clinical phenotype of DD, no mutations in either CLCN5 or OCRL were discovered. Therapy consisted of thiazides in 7 patients, and phosphate supplements and enalapril in 3 cases. Growth hormone therapy was initiated in 3 patients and resulted in improved growth rate.
We report clinical and molecular characterization of Polish children with DD. Our study suggests that this tubulopathy may be generally under-diagnosed in Poland. The study revealed variable treatments, demonstrating a need for therapeutic guidelines.
Dent disease in Poland: what we have learned so far? Zaniew, Marcin; Mizerska-Wasiak, Małgorzata; Załuska-Leśniewska, Iga ...
International urology and nephrology,
11/2017, Letnik:
49, Številka:
11
Journal Article
Recenzirano
Purpose
Dent disease (DD) is a rare tubulopathy characterized by proximal tubular dysfunction leading to chronic kidney disease (CKD). The aim of the study was to characterize patients with DD in ...Poland.
Methods
A retrospective analysis of a national cohort with genetically confirmed diagnosis.
Results
Of 24 males, all patients except one carried mutations in the
CLCN5
gene; in one patient a mutation in the
OCRL
gene was disclosed. Molecular diagnosis was delayed 1 year on average (range 0–21 years). The most common features were tubular proteinuria (100%), hypercalciuria (87%), and nephrocalcinosis (56%). CKD (≤stage II) and growth deficiency were found in 45 and 22% of patients, respectively. Over time, a progression of CKD and persistence of growth impairment was noted. Subnephrotic and nephrotic proteinuria (20%) was found in most patients, but tubular proteinuria was assessed in only 67% of patients. In one family steroid-resistant nephrotic syndrome prompted a genetic testing, and reverse phenotyping. Five children (20%) underwent kidney biopsy, and two of them were treated with immunosuppressants. Hydrochlorothiazide and angiotensin-converting enzyme inhibitors were prescribed for a significant proportion of patients (42 and 37.5%, respectively), while supplemental therapy with phosphate, potassium, vitamin D (12.5% each), and alkali (4.2%) was insufficient, when compared to the percentages of patients requiring repletion.
Conclusions
We found
CLCN5
mutations in the vast majority of Polish patients with DD. Proteinuria was the most constant finding; however, tubular proteins were not assessed commonly, likely leading to delayed molecular diagnosis and misdiagnosis in some patients. More consideration should be given to optimize the therapy.
Myelomeningocele (MMC) results from a failure of normal neural tube fusion in early fetal development. Retrospective, observational study of medical data of 54 children treated in Pediatric ...Nephrology and Urology Clinics for five years was performed. The following data were analyzed: serum creatinine, eGFR, urine analysis, renal scintigraphy (RS), renal ultrasound, and urodynamics. Mean age of studied population: 12.3 years, median of eGFR at the beginning and at the end of survey was 110.25 and 116.5 mL/min/1.73 m² accordingly. Median of frequency of urinary tract infections (fUTI): 1.2 episodes/year. In 24 children: low-pressure, in 30 children: high-pressure bladder was noted. Vesicouretral reflux (VUR) was noted in 23 children (42.6%). fUTI were more common in high-grade VUR group. High-grade VURs were more common in group of patients with severe renal damage. At the end of the survey 11.1% children were qualified to higher stages of chronic kidney disease. Renal parenchyma damage progression in RS was noted in 22.2% children. Positive VUR history, febrile recurrent UTIs, bladder wall trabeculation, and older age of the patients constitute risk factors of abnormal renal scans. More than 2.0 febrile, symptomatic UTIs annually increase by 5.6-fold the risk of severe renal parenchyma damage after five years.
Diabetes and Nephrotic syndrome (NS) promote plaque-related gingivitis and yeast-like fungal infections. The study assesses the impact of Candida spp. and general disease- or treatment-related ...factors on plaque-related gingivitis severity in children and adolescents with Nephrotic syndrome /diabetes.
Body mass index (BMI), BMI standard deviation score, and oral cavity (Plaque Index--PLI, Gingival Index--GI, mucosa status, presence and Candida enzymatic activity) were assessed in 96 patients (32 with NS: 30- immunosuppressive treatment, 35--type 1 diabetes, and 29 generally healthy), aged; 3-18 years. Laboratory included cholesterol and triglyceride measurements; in diabetic subjects- glycated haemoglobin, in NS: total protein, albumin, creatinine, haemoglobin, haematocrit, white cell count, urinary protein excretion. Medical records supplied information on disease duration and treatment. A statistical analysis was performed; Kendall Tau coefficient, chi-square test, t-test, and multiple regression analysis ( P < 0.05).
Candida spp. often occurred in healthy patients, but oral candidiasis was found only in the NS and diabetes groups (9.37% and 11.43%). Gingivitis occurred more frequently in patients with NS/diabetes. Gingivitis severity was correlated with PLI, age, and yeast enzyme activity in NS--to with immunosuppressive treatment with >1 drug, drug doses, treatment duration, lipid disorders, and BMI; in diabetes, with blood glucose and glycated haemoglobin >8%.
Poor hygiene control is the main cause of gingivitis. Gingivitis severity is most likely related to age, lipid disorders and increase in body mass. Candida spp., in uncompensated diabetes and in those using immunosuppressive treatment, might intensify plaque-related gingivitis.
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