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1.
Indian J Pediatr ; 2023 Dec 22.
Article in English | MEDLINE | ID: mdl-38133874

ABSTRACT

OBJECTIVES: To evaluate echocardiographic parameters, especially the Tei index as a predictor of outcome in critically ill children on continuous renal replacement therapy (CRRT). METHODS: This cohort study included all critically ill patients admitted at the Pediatric intensive care unit (PICU) and underwent CRRT. Functional echocardiography and Pediatric Risk of Mortality Index (PRISM) III were used to evaluate the participants. Both the Tei index and the Vasoactive inotropic score (VIS) were estimated. RESULTS: The study included 35 patients with an age range of 6 mo to 14 y. The Tei indexes, VIS, and PRISM III were reported as predictors of mortality with a sensitivity of 88%, 83%, and 94% and a specificity of 73%, 79%, and 89% respectively. In survivors, the mean Tei index score, median VIS, and mean PRISM values were 0.44 ± 0.1, 3.8 (0-40), and 12.06 ± 3.35, respectively. However, in non-survivors, the mean Tei index, median VIS, and mean PRISM score were 0.59 ± 0.16, 0.60 (0-342.5), and 22.94 ± 8.93, respectively. CONCLUSIONS: The Tei index could be used as a predictor for poor outcomes in children receiving CRRT. It is correlated to the PRISM score and VIS.

2.
Saudi Dent J ; 35(6): 760-767, 2023 Sep.
Article in English | MEDLINE | ID: mdl-37817788

ABSTRACT

Background: Periodontitis is a long-term, multifactorial inflammatory condition that is triggered by bacterial germs and interacts with the host's immune system. The unique attachment of fibrous tissue between the cementum and bone presents a challenge for periodontal regeneration. Aim: To achieve the lowest optimum dose of BMP-7 that helps in periodontal regeneration, involving newly formed cementum, PDL and bone. Materials and methods: Five healthy mongrel dogs were used for the study. A critical class III furcation defect was created using rotating burs. The bone defects (ten defects for each group) were allocated to one of the subsequent groups: (Group 1) control with the surgical defect only. (Group 2) Surgical defect implanted with hydrogel only (CS/ß-GP). (Group 3) Surgical defect implanted with CS/BMP-7 (50 ng/ml). (Group 4) Surgical defect implanted with CS/BMP-7 (100 ng/ml). Results: Histomorphometric and H&E analysis revealed a statistically significant difference in bone, PDL, and cementum regeneration defects filled with CS/BMP-7 (100 ng/ml) compared with other groups. Conclusion: The standard effective dose for BMP-7 use in periodontal regeneration is 100 ng/ml.

3.
Sci Rep ; 12(1): 20881, 2022 12 03.
Article in English | MEDLINE | ID: mdl-36463246

ABSTRACT

In one pot, the self-assembly of AgNO3 and 2-chloroquinoxaline (2Cl-quinox) in water-ethanol mixture afforded two novel crystalline Ag(I) complexes. The major product is the polymeric complex [Ag(2Cl-quinox)(NO3)]n; (1), while the minor product (2) comprises two molecules which are the monomeric [Ag(2Cl-quinox)2(NO3)]; (2a) and polymeric [Ag(2Cl-quinox)(NO3)]n; (2b) complexes. The single crystal X-ray structure revealed that 1 and 2b are made up of two-dimensional infinite sheets. In contrast, 2a is a monomeric complex which has a highly distorted tetrahedral geometry around Ag(I) center. In all cases, the 2Cl-quinox molecule acts as a terminal monodentate ligand. Complexes 1 and 2b have similar molecular structures and also have almost similar crystal packing. Using Hirshfeld surface analysis, the O…H hydrogen bonds and π-π stacking interactions contributed significantly to the molecular packing. Both complexes have broad-spectrum action towards multi drug-resistance bacteria. The most effective function of 2 is against Proteus morganii, with a MIC value of 8 µg/mL. Complex 2 (IC50 = 5.93 ± 0.52 µg/mL) has remarkably greater cytotoxic effect against lung carcinoma (A-549) than cis-platin (IC50 = 7.5 ± 0.69 µg/mL) and AgNO3 (IC50 = 14.7 ± 0.53 µg/mL). The higher Ag-content in 2 could be the main reason for its higher cytotoxicity than 1.


Subject(s)
Anti-Infective Agents , Quinoxalines , X-Rays , Quinoxalines/pharmacology , Ligands , Anti-Bacterial Agents/pharmacology
4.
Sci Rep ; 12(1): 11518, 2022 07 07.
Article in English | MEDLINE | ID: mdl-35798780

ABSTRACT

Biosynthesis of gold nanoparticles (AuNPs) using algal polysaccharides is a simple, low-cost, and an eco-friendly approach. In the current study, different concentrations of Arthospira platensis exopolysaccharides (EPS) were used to synthetize AuNPs via the reduction of gold ions. The biologically synthesized AuNPs (AuNPs1, AuNPs2, AuNPs3) were prepared in 3 different forms through the utilization of three different ratios of EPS-reducing agents. AuNPs analysis confirmed the spherical shape of the EPS-coated AuNPs. Furthermore, AuNPs prepared by EPS and L-ascorbic acid (AuNPs3) showed more stability than the AuNPs colloidal solution that was prepared using only L-ascorbic acid. Analysis of the antimicrobial effects of AuNPs showed that E. coli was the most sensitive bacterial species for AuNPs3 and AuNPs1 with inhibition percentages of 88.92 and 83.13%, respectively. Also, safety assay results revealed that AuNPs3 was the safest biogenic AuNPs for the tested noncancerous cell line. The anticancer assays of the biogenic AuNPs1, AuNPs2, and AuNPs3 against MCF-7 cell line indicated that this cell line was the most sensitive cell line to all treatments and it showed inhibition percentages of 66.2%, 57.3%, and 70.2% to the three tested AuNPs, respectively. The AuNPs also showed abilities to arrest MCF-7 cells in the S phase (77.34%) and increased the cellular population in the sub G0 phase. Gene expression analysis showed that AuNPs3 down regulated Bcl2, Ikapα, and Survivn genes in MCF-7 treated-cells. Also, transmission electron microscopy (TEM) analysis of MCf-7 cells revealed that AuNPs 3 and AuNPs2 were localized in cell vacuoles, cytoplasm, and perinuclear region.


Subject(s)
Breast Neoplasms , Metal Nanoparticles , Anti-Bacterial Agents/pharmacology , Ascorbic Acid/pharmacology , Breast Neoplasms/drug therapy , Escherichia coli , Female , Gold/pharmacology , Green Chemistry Technology/methods , Humans , Microbial Sensitivity Tests , Plant Extracts/pharmacology
5.
Molecules ; 27(3)2022 Feb 06.
Article in English | MEDLINE | ID: mdl-35164351

ABSTRACT

The reaction of 4-hydroxyquinazoline (4HQZ) with aqueous solution of nitric acid afforded the corresponding quinazolinone-nitrate (4HQZN) complex in very good yield. The crystal structure of 4HQZN was determined and its structural and supramolecular structural aspects were analyzed. 4HQZN crystallized in the space group P21/c and monoclinic crystal system with one [4HQZ-H]+[NO3]- formula and Z = 4. Its supramolecular structure could be described as a 2D infinite layers in which the 4HQZN molecules are connected via N-H…O and C-H…O hydrogen bridges. Using DFT calculations, the relative stability of five suggested isomers of 4HQZN were predicted. It was found that the medium effects have strong impact not only on the isomers' stability but also on the structure of the 4HQZN. It was found that the structure of 4HQZN in DMSO and methanol matched well with the reported X-ray structure which shed the light on the importance of the intermolecular interactions on the isomers' stability. The structure of 4HQZN could be described as a proton transfer complex in which the nitrate anion acting as an e-donor whiles the protonated 4HQZ is an e-acceptor. In contrast, the structure of the isolated 4HQZN in gas phase and in cyclohexane could be described as a 4HQZ…HNO3 hydrogen bonded complex. Biological screening of the antioxidant, anticancer and antimicrobial activities of 4HQZ and 4HQZN was presented and compared. It was found that, 4HQZN has higher antioxidant activity (IC50 = 36.59 ± 1.23 µg/mL) than 4HQZ. Both of 4HQZ and 4HQZN showed cell growth inhibition against breast (MCF-7) and lung (A-549) carcinoma cell lines with different extents. The 4HQZ has better activity with IC50 of 178.08 ± 6.24 µg/mL and 119.84 ± 4.98 µg/mL, respectively. The corresponding values for 4HQZN are 249.87 ± 9.71 µg/mL and 237.02 ± 8.64 µg/mL, respectively. Also, the antibacterial and antifungal activities of 4HQZN are higher than 4HQZ against all studied microbes. The most promising result is for 4HQZN against A. fumigatus (MIC = 312.5 µg/mL).


Subject(s)
Anti-Bacterial Agents/pharmacology , Antifungal Agents/pharmacology , Coordination Complexes/pharmacology , Nitrates/chemistry , Quantum Theory , Quinazolinones/chemistry , Coordination Complexes/chemistry , Crystallography, X-Ray , Density Functional Theory , Hydrogen Bonding , Models, Molecular , Nitrates/metabolism , Quinazolinones/metabolism
6.
Clin Med Insights Cardiol ; 14: 1179546820930015, 2020.
Article in English | MEDLINE | ID: mdl-32550769

ABSTRACT

BACKGROUND: Cardiac systolic dysfunction was potentially found in adult patients with end-stage renal disease (ESRD) who have preserved left ventricular ejection fraction (EF%). In children with ESRD, little data are available on early changes in myocardial function. This study aimed to detect the early changes in myocardial mechanics in pediatric patients with ESRD using speckle tracking echocardiography (STE). METHODS: Thirty ESRD children receiving hemodialysis (HD) and30 age-matched controls were prospectively studied. Patients underwent echocardiographic studies before and after HD. Left ventricular longitudinal strain (LS), circumferential strain (CS), and radial strain (RS) myocardial deformation parameters (strain, strain rate) were evaluated by STE. RESULTS: The LS was significantly reduced in pre-HD and post-HD patients compared with controls (P = .000). Controls showed the highest global longitudinal strain. The RS measurements did not differ significantly among the studied groups except for the inferior segment that is significantly reduced after HD compared with controls (P < .05). The CS was significantly reduced in pre-HD and post-HD patients compared with controls at the lateral and posterior segments (P = .035 and P = .013, respectively). CONCLUSION: Speckle-tracking echocardiography might detect early changes in myocardial mechanics in children with ESRD with preserved EF%.

7.
Medicine (Baltimore) ; 99(7): e18730, 2020 Feb.
Article in English | MEDLINE | ID: mdl-32049781

ABSTRACT

The off-label use of medications is a "right" for pediatricians, owing to lack of enough safety and effectiveness drug trials in pediatric age group. Pediatricians have to rely on their personal judicial use of medications in children.We studied off-label use of ursodeoxycholic acid (UDCA) retrospectively during 2005 to 2015 among those who attended the Pediatic Hepatology Unit, Cairo University.We analyzed data of 779 neonates and infants with cholestasis. 15% dropped out. Males comprised 374 (56.5%). Cholestasis was due to surgical causes in 129 (19.5%), neonatal hepatitis in 445 (67.2%), and paucity of intrahepatic bile ducts in 88 (13.3%). Three hundred sixty (54.4%) received UDCA (15-30 mg/kg/d), and 302 (45.6%) did not. Both groups were matched as regards causes and severity of cholestasis. Those who received UDCA had worse outcome (P < .001), and more complications (P < .001). A total of 73.1% (221) achieved cure without UDCA compared to only 45.8% (165) of those on UDCA (P < .001).UDCA is not effective and not safe in Egyptian neonates and infants with cholestasis. UDCA use compromises chance of cure, and is associated with serious morbidity, progression of disease, and death. UDCA off-label use mortality was absolutely preventable. Off- label use of UDCA in neonates and children should be utterly prohibited. Information of use of off-label medications, effectiveness, and safety, should be recorded, analyzed, and made available within context of Off-label Use Registry Studies with informed consent of parents.


Subject(s)
Cholestasis/mortality , Postoperative Complications/epidemiology , Ursodeoxycholic Acid/adverse effects , Case-Control Studies , Cholestasis/epidemiology , Cholestasis/etiology , Egypt/epidemiology , Female , Humans , Infant , Infant, Newborn , Male , Off-Label Use , Postoperative Complications/mortality , Retrospective Studies , Severity of Illness Index
8.
J Egypt Public Health Assoc ; 94(1): 19, 2019 Jun 13.
Article in English | MEDLINE | ID: mdl-32813177

ABSTRACT

BACKGROUND: Professional advice provided to mothers has an effective role on the prevalence and duration of breastfeeding. Previous studies showed that health care providers had defective knowledge and skills necessary to promote and support breastfeeding. AIM: To assess breastfeeding-related knowledge and attitude among interns at Cairo University Hospital, before and after the provision of breastfeeding educational training sessions. MATERIALS AND METHODS: The first phase was a cross-sectional study, conducted in Cairo University Hospital (Kasr Al Ainy) among 137 interns. The second phase was a pre-post interventional design. A pretested self-administered questionnaire was used to explore breastfeeding-related knowledge and attitude before, immediately after, and 3 months after breastfeeding educational sessions. RESULTS: Participants' mean age was 23.7 ± 0.81, (range 22-27 years), with equally distributed males and females. The median total knowledge percent score was 56.4 (45.2-64.5). The highest median subtotal knowledge percent score was for effective feeding 100 (100-100), and the least median was for breast milk expression 20 (0:40). Participants' knowledge improved after the educational intervention: The subtotal knowledge scores showed a statistically significant improvement immediately after and 3 months after the intervention in the following items: advantages for the baby, colostrum, duration, complementary feeding, and breast milk expression. The median total attitude percent score was 80 (74.1-83.5) and significantly improved immediately after the intervention. CONCLUSION: Baseline knowledge and attitude scores among interns significantly improved after the intervention. Therefore, adoption of different curricular and extracurricular activities to improve breastfeeding knowledge and skills is required.

9.
Arch Med Sci Atheroscler Dis ; 3: e18-e28, 2018.
Article in English | MEDLINE | ID: mdl-30775585

ABSTRACT

INTRODUCTION: Tissue Doppler imaging (TDI) is a relatively new echocardiography method in children with chronic kidney disease (CKD). The aims of this study were to evaluate left ventricular (LV) diastolic function in pediatric CKD patients using conventional pulsed-wave Doppler echocardiography (cPWD) and TDI methods and correlate them with BNP levels. MATERIAL AND METHODS: Thirty children on regular hemodialysis (HD) were included. Left ventricular systolic and diastolic indices and BNP levels were measured immediately before and after HD. RESULTS: After HD, LV and left atrium diameters were significantly decreased (p < 0.001 and p < 0.001, respectively). Transmitral E velocity and E/A ratio decreased (p < 0.001 and p < 0.001, respectively). Also, there were significant decreases in the early diastolic velocity E' of LV wall, septal wall, and anterior wall (p = 0.001, p = 0.004 and p < 0.001, respectively). Mean E/E' ratio and ratios of septal and lateral walls were decreased significantly (p = 0.004, p = 0.002 and p = 0.017, respectively). BNP levels decreased significantly during HD when comparing concentrations before and after HD (p < 0.001). BNP strongly correlated with LV diastolic function indices (before HD: mean E/E' (r = 0.401, p = 0.028), lateral E/E" (r = 0.291, p = 0.025), septal E'(r = -0.398, p = 0.029), lateral wall E' (r = -0.452, p = 0.012) and mean E' (r = -0.469, p = 0.009), after HD: mean E/E' (r = 0.38, p = 0.038) and lateral E/E" (r = 0.474, p = 0.008) and lateral wall E' (r = -0.270, p = 0.037)). CONCLUSIONS: The cPWD and TDI-derived LV indices are influenced by HD. The diagnostic utility of BNP in the presence of deteriorating renal function may be compromised to some extent.

10.
J Adv Res ; 8(6): 663-668, 2017 Nov.
Article in English | MEDLINE | ID: mdl-28879059

ABSTRACT

Surgical stress, liberation of cytokines associated with re-perfusion injury, and long standing use of immune suppressive medications in children recipients of orthotopic living related liver transplantation (OLRLT) pose cardiovascular risk. Reported cardiovascular adverse effects vary from left ventricular wall thickening, hypertrophic cardiomyopathy to resting ECG abnormalities, asymptomatic ST depression following increased heart rate and ventricular arrhythmias. Twenty-five consecutive children recipients of OLRLT were assessed by conventional 2-D, M-mode echocardiography and Doppler. The mean age ± SD at transplantation and at enrollment in study was 6.3 ± 4.5 and 13.5 ± 5.6 years respectively. All children were on immunosuppressive medications, with tacrolimus being constant among all. Long-term post-transplant echocardiography revealed statistically significant interventricular septal hypertrophy among all (mean thickness 0.89 ± 0.16 cm), (P = 0.0001) in comparison to reference range for age, 24 had pulmonary hypertension (mean mPAP 36.43 ± 5.60 mm Hg, P = 0.0001), and early diastolic dysfunction with a mean Tei index of 0.40 ± 0.10. However cardiac function was generally preserved. Children recipients of OLRLT have cardiac structural and functional abnormalities that can be asymptomatic. Pulmonary hypertension, increased cardiac mass, de novo aortic stenosis and diastolic heart failure were among abnormalities encountered in the studied population. Echocardiography is indispensible in follow-up of children recipients of OLRLT.

11.
Nephrol Ther ; 13(3): 176-182, 2017 May.
Article in English | MEDLINE | ID: mdl-28161266

ABSTRACT

BACKGROUND AND AIM: Primary hyperoxalurias are rare inborn errors of metabolism resulting in increased endogenous production of oxalate that leads to excessive urinary oxalate excretion. Diagnosis of primary hyperoxaluria type 1 (PH1) is a challenging issue and depends on diverse diagnostic tools including biochemical analysis of urine, stone analysis, renal biopsy, genetic studies and in some cases liver biopsy for enzyme assay. We characterized the clinical presentation as well as renal and extrarenal phenotypes in PH1 patients. METHODS: This descriptive cohort study included patients with presumable PH1 presenting with nephrolithiasis and/or nephrocalcinosis (NC). Precise clinical characterization of renal phenotype as well as systemic involvement is reported. AGXT mutational analysis was performed to confirm the diagnosis of PH1. RESULTS: The study cohort included 26 patients with presumable PH1 with male to female ratio of 1.4:1. The median age at time of diagnosis was 6 years, nevertheless the median age at initial symptoms was 3 years. Thirteen patients (50%) were diagnosed before the age of 5 years. Two patients had no symptoms and were diagnosed while screening siblings of index patients. Seventeen patients (65.4%) had reached end-stage renal disease (ESRD): 6/17 (35.3%) during infancy, 4/17 (23.5%) in early childhood and 7/17 (41.29%) in late childhood. Two patients (7.7%) had clinically manifest extra renal (retina, heart, bone, soft tissue) involvement. Mutational analysis of AGXT gene confirmed the diagnosis of PH1 in 15 out of 19 patients (79%) where analysis had been performed. Fifty percent of patients with maintained renal functions had projected 10 years renal survival. CONCLUSION: PH1 is a heterogeneous disease with wide spectrum of clinical, imaging and functional presentation. More than two-thirds of patients presented prior to the age of 5 years; half of them with the stormy course of infantile PH1. ESRD was the commonest presenting manifestation in two-thirds of our cohort.


Subject(s)
Hyperoxaluria, Primary/diagnosis , Hyperoxaluria, Primary/genetics , Mutation , Transaminases/genetics , Adult , Child , Child, Preschool , Cohort Studies , Consanguinity , Egypt , Female , Humans , Hyperoxaluria, Primary/metabolism , Hyperoxaluria, Primary/mortality , Infant , Kidney Failure, Chronic/genetics , Male , Nephrocalcinosis/diagnosis , Nephrocalcinosis/genetics , Nephrolithiasis/diagnosis , Nephrolithiasis/genetics , Phenotype , Pyridoxine/therapeutic use , Retrospective Studies , Risk Factors , Tertiary Care Centers , Treatment Outcome , Vitamin B Complex
12.
Arch Med Sci Atheroscler Dis ; 1(1): e23-e31, 2016.
Article in English | MEDLINE | ID: mdl-28905015

ABSTRACT

INTRODUCTION: Serum procalcitonin (PCT) levels are known to be low in healthy individuals in healthy subjects but are increased in patients with a severe bacterial infection. It has not been extensively studied in children with chronic kidney disease (CKD), treated either with hemodialysis (HD) or with renal transplantation. MATERIAL AND METHODS: During a 6-month period, blood samples were taken from 102 (55 HD children and 47 renal transplant recipients) children with a strong clinical suspicion of infection. Procalcitonin levels were measured by ELISA. RESULTS: Thirty-four/102 cases had proven infections as defined previously. Children with proven infections had a significantly higher PCT (0.920 ±0.24 ng/ml) than those without (0.456 ±0.53 ng/ml), p = 0.04. The ideal cutoff value derived for serum PCT was 0.5 ng/ml. This threshold value established a sensitivity of 94.1% and a specificity of 87.9%. CONCLUSIONS: This study indicates that significantly increased PCT concentration is a promising predictor of systemic bacterial infection in children with CKD, with good sensitivity and specificity. This study proposes that serum PCT is a convenient index of infection in CKD children at a cutoff value of 0.5 ng/ml.

13.
Spectrochim Acta A Mol Biomol Spectrosc ; 130: 453-65, 2014 Sep 15.
Article in English | MEDLINE | ID: mdl-24813274

ABSTRACT

A new [Ag(E3Q)2(TCA)] complex; (E3Q=Ethyl 3-quinolinecarboxylate and TCA=Trichloroacetate) has been synthesized and characterized using elemental analysis, FTIR, NMR and mass spectroscopy. The molecular geometry and spectroscopic properties of the complex as well as the free ligand have been calculated using the hybrid B3LYP method. The calculations predicted a distorted tetrahedral arrangement around Ag(I) ion. The vibrational spectra of the studied compounds have been assigned using potential energy distribution (PED). TD-DFT method was used to predict the electronic absorption spectra. The most intense absorption band showed a bathochromic shift and lowering of intensity in case of the complex (233.7 nm, f=0.5604) compared to E3Q (λmax=228.0 nm, f=0.9072). The calculated (1)H NMR chemical shifts using GIAO method showed good correlations with the experimental data. The computed dipole moment, polarizability and HOMO-LUMO energy gap were used to predict the nonlinear optical (NLO) properties. It is found that Ag(I) enhances the NLO activity. The natural bond orbital (NBO) analyses were used to elucidate the intramolecular charge transfer interactions causing stabilization for the investigated systems.


Subject(s)
Carboxylic Acids/chemistry , Quinolines/chemistry , Silver/chemistry , Trichloroacetic Acid/chemistry , Ligands , Magnetic Resonance Spectroscopy , Mass Spectrometry , Molecular Conformation , Molecular Structure , Optics and Photonics , Software , Spectrophotometry, Infrared , Spectrophotometry, Ultraviolet , Spectroscopy, Fourier Transform Infrared , Static Electricity , Vibration
14.
Ren Fail ; 36(5): 694-700, 2014 Jun.
Article in English | MEDLINE | ID: mdl-24655010

ABSTRACT

BACKGROUND: Renal cystic disorders (RCD) constitute an important and leading cause of end-stage renal disease (ESRD) in children. It can be acquired or inherited; isolated or associated with extrarenal manifestations. The precise diagnosis represents a difficult clinical challenge. METHODS: The aim of this study was to define the pattern of clinical phenotypes of children with renal cystic diseases in Pediatric Nephrology Center, Cairo University. We have studied the clinical phenotypes of 105 children with RCD [45 (43%) of them had extrarenal manifestations]. RESULTS: The most common disorders were the presumably inherited renal cystic diseases (65.7%) mainly nephronophthisis and related ciliopathies (36.2%), as well as polycystic kidney diseases (29.5%). Moreover, multicystic dysplastic kidneys accounted for 18% of study cases. Interestingly, eight syndromic cases are described, yet unclassified as none had been previously reported in the literature. CONCLUSION: RCD in this study had an expanded and complex spectrum and were largely due to presumably inherited/genetic disorders (65.7%). Moreover, we propose a modified algorithm for clinical and diagnostic approach to patients with RCD.


Subject(s)
Kidney Diseases, Cystic/diagnostic imaging , Adolescent , Child , Child, Preschool , Cross-Sectional Studies , Egypt/epidemiology , Female , Humans , Infant , Infant, Newborn , Kidney Diseases, Cystic/epidemiology , Kidney Diseases, Cystic/etiology , Male , Phenotype , Ultrasonography
15.
Saudi J Kidney Dis Transpl ; 23(5): 1090-8, 2012 Sep.
Article in English | MEDLINE | ID: mdl-22982934

ABSTRACT

Nephronophthisis (NPHP) is a recessive disorder of the kidney that is the leading genetic cause of end-stage renal failure in children. Egypt is a country with a high rate of consanguineous marriages; yet, only a few studies have investigated the clinical and molecular characteristics of NPHP and related ciliopathies in the Egyptian population. We studied 20 children, from 17 independent families, fulfilling the clinical and the ultrasonographic criteria of NPHP. Analysis for a homozygous deletion of the NPHP1 gene was performed by polymerase chain reaction on the genomic DNA of all patients. Patients were best categorized as 75% juvenile NPHP, 5% infantile NPHP, and 20% Joubert syndrome-related disorders (JSRD). The mean age at diagnosis was 87.5 + 45.4 months, which was significantly late as compared with the age at onset of symptoms, 43.8 ± 29.7 months (P <0.01). Homozygous NPHP1 deletions were detected in six patients from five of 17 (29.4%) studied families. Our study demonstrates the clinical phenotype of NPHP and related disorders in Egyptian children. Also, we report that homozygous NPHP1 deletions account for 29.4% of NPHP in the studied families in this cohort, thereby confirming the diagnosis of type-1 NPHP. Moreover, our findings confirm that NPHP1 deletions can indeed be responsible for JSRD.


Subject(s)
Abnormalities, Multiple , Adaptor Proteins, Signal Transducing/genetics , Kidney Diseases, Cystic/congenital , Kidney/pathology , Membrane Proteins/genetics , Sequence Deletion , Age Factors , Child , Child, Preschool , Cilia/pathology , Cytoskeletal Proteins , DNA Mutational Analysis , Disease Progression , Egypt , Female , Gene Frequency , Genetic Predisposition to Disease , Homozygote , Humans , Infant , Kidney/diagnostic imaging , Kidney Diseases, Cystic/complications , Kidney Diseases, Cystic/diagnostic imaging , Kidney Diseases, Cystic/genetics , Kidney Diseases, Cystic/pathology , Kidney Failure, Chronic/genetics , Kidney Failure, Chronic/pathology , Male , Phenotype , Polymerase Chain Reaction , Predictive Value of Tests , Ultrasonography
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