Significance of heart murmur in diagnosis of congenital heart disease in newborn babies

This study was conducted to determine the clinical and echocardiographic evaluation of neonate with heart murmur and contribution of neonatal examination especially presence or absence of cardiac murmur in the detection of congenital heart disease [CHD]. The study was carried out in neonatology unit in althawra teaching Hospital-albaida Libya during the-period from January 2009 to January 2010. Neonates having heart murmur or when there were some clues to doubt CHD like cyanosis, respiratory distress, heart failure and echocardiography were done for all. CHD were classified according to the structural defect with the echocardiographic findings. Total 722 neonates were admitted during one year period. Heart murmurs were found in 81 cases. Out of 8 leases 34 [41.9%] had CHD confirmed by echocardiography. Another 9 neonates were found to have CHD without murmur after echocardiography. In total 43 [5.9%] neonates had CHD. Infant with CHD may present with or without murmur. Clinical examination with Careful auscultation is mandatory in the initial evaluation of neonates to identify CHD. The infant having suggestive features for CHD with or without murmur should undergone echocardiography, so that appropriate management and early intervention can be done

Spectrum of congenital heart defects associated with down syndrome in Aljabel Al Akhdar/Libya

A prospective study to identify the pattern of congenital heart defects [CHD] in children with Down Syndrome [DS] and compare it with CHD in children without DS in Libyan population in specific area in the eastern part of Libya, aljabel alakhdar [10,000 km2 and 200,000 population]. All children with DS referred to the cardiac Clinic from June 2007 to July 2010 formed the subjects [Group I]. Children without DS seen at the clinic during the same period served as controls [Group II] Two-dimensional echo-Doppler studies were performed on both groups and the results compared. CHD were detected in 27/43 [63%] children in Group I, compared to 348/1152 [30.2%] in Group II [P<0.001]. The common CHD in Group I included atrial septal defect [ASDII; 10/27], AVSD [4/27], Patent ductus arteriosus [PDA; 6/27] and ventricular septal defect [VSD; 6/27], and in Group II included ASD [101/348], VSD [87/348], patent ductus arteriosus [58/348], pulmonary stenosis [PS; 35/348] and AVSD [2/348]. AVSD was more common [P<0.001] and PS less common [P=0.03] in Group I. Aortic stenosis, coarctation of aorta, transposition of great arteries, Tetrology of Fallot [TOF] and complex heart diseases were not detected in group I. A high frequency of CHD was documented in DS-children; ASD was most frequent in DS. An interesting observation was the relative rarity of some CHD in the DS population studied

Congenital heart disease in infants of diabetic mother's echocardiographic study

Study of neonates born to Mothers with diabetes mellitus [including Gestational diabetes] to detect the spectrum of congenital heart disease [CHD] using non-invasive echocardiographic screening. Between October2007 and January 2010, a prospective study of68 infants of diabetic mothers [IDMs] at Al-thawra teaching Hospital in Albaida-libya was arranged. .Family and maternal history included, cardiovascular system examination and echocardiography were performed. Total of 68 IDMs examined, Echocardiographic findings were: patent foramen oval [72%].PDA [53%], ventricular septal defect both muscular and membranous [10%], atrial septal defect [6%], and valvular pulmonary stenosis [<2%], peripheral pulmonary stenosis [6%] Hypertrophied interventricular septum was seen in 60% of cases. Tetrology of fallot [3%], Hypo plastic left heart syndrome one case [<2%], TGAnot seen in this group of study, other complex cardiac Topography account 1.5%, isolated coarctation of aorta<2%. Overall incidence of congenital heart disease was 25% [without PDA, PFO, septum hypertrophy, peripheral PS]. Maternal diabetes is a significant risk factor for CHD. Careful evaluation and early diagnosis of CHD in this high-risk group are highly recommended and there is a need for development of postnatal screening programs for CHD in this risk group in our population, also our policy of antenatal hyperglycemia control need to be reviewed

Clinicopathological study of juvenile nephronophthisis

Juvenile nephronophthisis [NPH] is an important cause of chronic renal failure [CRF] in children and adolescents. It is inherited as an autosomal recessive trait. To the best of our knowledge there have been no detailed clinicopathological studies in Egypt or Arab countries on this disease. The aim of this work was to study NPH in Egyptian children. Eighteen cases with NPH were studied in Alexandria University Children's Hospital during the period from March 2001 to January 2004. They were subjected to thorough clinical, ophthalmological, and laboratory evaluation. Radiological skeletal survey, abdominal ultrasonography [US] and thin-section abdominal computed tomography [CT] were done in all cases. The diagnosis of NPH was based on typical clinical presentation, laboratory and sonographic evidences of chronic tubulointerstitial renal disease, not related to urologic abnormality, and progressing to chronic renal insufficiency [CRI] or CRF. Confirmation of the diagnosis was done by histological and ultrastructural examination of the renal biopsy in all cases. The mean age of cases was 11.3 +/- 2.6 years, and male to female ratio was 1:1. The chief complaints in studied cases were polyuria, polydipsia, nocturnal enuresis and growth retardation noted at a mean age of 5.5 +/- 1.8 years. Poor urinary concentration, anemia and chronic renal insufficiency or failure were noted in all cases during hospitalization. Eight cases had end stage renal failure [ESRF] and required chronic dialysis. The mean age at ESRF was 10 +/- 2 years. The mean value of creatinine clearance in NPH cases was 24 +/- 15 mL/min/1.73 m[2]BSA versus 106 +/- 8 mL/min/1.73 m[2]BSA in control group [p=0.001]. Out of 121 children with CRF or CRI registered during the period of the study in Alexandria University Children's Hospital 15% were due to NPH. The prevalence of this disease among dialysis population aged 5 - 15 years was 18%. Inheritance of NPH in familial cases was compatible with autosomal recessive transmission. Three of the studied cases [16.7%] had retinal dystrophy in addition to the manifestations of NPH, Two cases sf them had a picture similar to childhood onset retinitis pigmentosa, while the other case had a retinal dystrophy indistinguishable from Leber's congenital amaurosis. These findings were consistent with the diagnosis of Senior Loken syndrome which is a rare autosomal recessive syndrome that combines NPH and tapetoretinal degeneration. Renal sonographic examinations revealed renal hyperechogenicify and poor corticomedullary differentiation in all cases, reduced renal size in 44% of cases, and medullary cysts in 39% of cases. Thin-section CT scans revealed the medullary cysts in 50% of the cases. No cysts in other abdominal organs or hepatic fibrosis were detected either by US or CT in studied cases. Apart from the rachitic-like changes noted in 4 cases with ESRF; no other skeletal abnormalities were found by radialogical surveys. Histological examination of renal biopsies revealed pronounced tubular atrophy with marked thickening of the tubular basement membrane [TBM] and microcyst formation in all cases. It was accompanied with diffuse interstitial fibrosis and focal interstitial infiltration by chronic inflammatory cells. Ultrastructurally, the TBM displayed abrupt transition from thin to markedly thickened Iamellated areas

Conclusions: this study emphasized the importance of NPH as a cause of CRF in Egyptian children with a prevalence of 15%. It clarified its insidious course, manifestations and paucity of alarming signs. Also, it reported 3 cases with the rare Senior Loken syndrome. High index of suspicion for NPH is needed during evaluation of children and adolescents with refractory anemia, polyuria, isothenuria, growth retardation or unexpiained renal impairment. We recommend renal US to be an essential part of the diagnostic approach of cases suspected to have NPH, but the absence of renal medullary cysts does not exclude the diagnosis

Etiology of nephrocalcinosis in infants and Children

Nephrocalcinosis [NC] is the deposition of calcium and oxalate or phosphate in the renal tubules, tubular epithelium or renal interstitial tissue. It is being recognized more frequently since the introduction of ultra sonographic imaging. The sonographic appearance of NC is characterized by presence of echo- dense deposits in renal medulla, cortex or both. This study was conducted to define the underlying etiology of NC in Egyptian infants and children. Thirty two cases with NC were studied in Alexandria University Children's Hospital during the period [January 2001 to January 2004]. The ages of studied cases varied between I month and 9 years with male to female ratio of 1:3:1. Mean age at diagnosis was 2.8 +/- 2.7 years. Thorough clinical, imaging and metabolic evaluations were done to all cases. Sonographic evidences of bilateral medullary NC were evident in 87.5% of cases, combined medullary and cortical NC occurred in 9.4 % of cases, while cortical NC was found in only one case [3.13%]. Abdominal X-ray detected NC in only 34.4% of patients. Clinical presentations of NC were polyuria, polydipsia or dehydration in 62.5%, metabolic acidosis in 53%, urinary tract infection in 47%, psychomotor retardation [44%] failure to thrive [37.5%], abdominal or loin pain [31%], gross or microscopic hematuria [25%] and spontaneous passage of stones [12.5%]. Nephrolithiasis was associated with NC in 79% of the cases. Family history of renal stones was reported in 25% of cases compared to 10% in controls. , , Infants with NC [group I] had normal anion gap [AG], increased mean serum levels of calcium [Ca] and I chloride and decreased mean level of blood pH but without reaching statistical significance. Serum ; potassium, HCO3, urinary specific gravity [SG], citrate/creatinine and magnesium/ creatinine ratios were significantly reduced in group I, while urinary pH and Calcreatinine ratio were significantly elevated [p= 0.02,0.001 respectively]. Infant mortality was 41.2% due to recurrent sepsis. Blood urea, creatinine [Cr] and AG were high in patients older than one year of age [groups II and III], while HCO3 and Cr clearance were significantly lower than the control values [p<0.005]. Serum uric acid in cases older than 5 years [group III] was significantly higher than the control group. Urinary 24 hour calcium and oxalate output were significantly high in groups II and III [p=0.0001, 0.02 respectively] while urinary output of citrate, magnesium and phosphate were significantly lower in these cases compared to controls [p<0.005]. , Nephrocalcinosis was due to metabolic diseases in 75% of the cases and due to iatrogenic hypervitaminosis D [HVD] in 25%. Metabolic errors were distal renal tubular acidosis [RTA-I] in 37.5%, renal idiopathic hypercalciuria [IHC] in 25% and primary hyperoxaluria [PHyOx] in 12.5%. Hypercalciuria ' was the commonest urinary abnormality detected in 87.5% of cases, being due to RTA-I in 42%, IHC in I 29% and HVD in 29%. Hyperoxaluria was present in 723% of cases due to PHyOx. Hypocitraturia and hypomagnesuria were found in 75% and 66%of cases respectively. Etiology of NC in infants was RTA-I in 64.7% and HVD in 35.3%. The commonest cause sf NC in cases > 1 year of age was IHC [53%]. None of the studied cases showed resolution of NC during the years of follow-up [1.8 +/- 0.9 years]

Conclusions: the diagnosis of NC requires a thorough evaluation to identify the underlying offending factor. Different etiological factors may interplay to produce NC; but metabolic errors played the major role in the current study [75%], while iatrogenic HVD was responsible for 25% of the cases. The metabolic causes of NC were RTA-I, IHC and PHyOx. Hypercalciuria was the most common urinary abnormality detected in 87.5% of cases. The deficiency of the urinary calcium crystallization inhibitors manifested by hypocitraturia in 75%of cases and hypomagnesuria in 66% were associated possibly contributing risk factors in most of the cases. Ultrasonography is superior to abdominal X-ray and CT in early detection of NC

Study of Serum Calcium, Parathyroid Hormone and Calcidiol in Child hood Nephrotic Syndrome

The aim of the present work was to study serum calcium, parathyroid hormone [PTH] and Calcidiol [25- hydroxyl vitamin D] in children with the first attack of nephrotic syndrome [NS]. The study was conducted on ten patients with minimal change NS [MCNS] [group I] and ten patients with non-MCNS [group II]. They were I1 males and 9 females, their age ranged from 2 to 11 years. Minimal change NS was diagnosed according to the criteria of the International Study of Kidney Diseases in Children [ISKDC]. Ten healthy children of matching age and sex served as a control group. Patients who received medications known to affect calcium and vitamin D metabolism were excluded. All patients had adequate sun exposure and normal diet except for salt restriction. All patients were studied during the active stage of their initial attack. They had nephrotic range proteinuria, hypoalbuminemia, hypercholesterolemia, normal renal function and were not bed ridden. Total serum calcium [Ca], ionized Ca, phosphorus, alkaline phosphatase [ALP], PTH and Calcidiol were measured in cases and controls. The investigations were repeated in-group I after remission. Urinary Ca and phosphorus output were measured in nephrotic children. None of the patients had tetany or other hypocalcemia manifestations. Mean values of total serum Ca and 25[OH] D were significantly lower in both nephrotic groups compared to the control group [P0.000]. The mean values of serum ionized Ca, phosphorus, ALP, PTH, urea and creatinine did not show any statistically significant difference between the studied groups. Total serum Ca after remission was not significantly different from the control group. Serum ionized Ca, phosphorus, and ALP did not show any statistically significant difference between the active stage, remission or control group. PTH was significantly higher during active stage than in remission [P0.004]. The mean value of 25[OH] D increased offer remission [P=0.001], but its level was still significantly lower than the control group [P0.000]. Hypocalcaemia [> 2 mg/kg/day] was evident in the MCNS group. Urinary phosphorus output was normal in both nephrotic groups

Conclusion: this study showed a subclinical compensatory hyperparathyroidism during protein uric phase of initial attacks of NS evidenced by normal serum ionized calcium, low 25 [OH] D and relative increase of PTH. There was no true hypocalcemia in studied cases; total serum calcium being partly albumin-bound was reduced due to associated hypoalbuminemia. Thus, the routine use of vitamin D and calcium supplementation during the initial attacks of NS are not recommended

Oxidized low density lipoprotein and oxidized bow density lipoprotein antibodies in children with nephrotic syndrome

High levels of low-density lipoprotein [LDL] usually found in nephrotic syndrome [NS] may give rise to atherosclerosis. Oxidative modification of LDL has been suggested to be a key step in atherogenesis. Oxidized low-density lipoprotein [oxLRL] can elicit an immune reaction leading to the formation of anti- oxLDL autoantibodies [oxLDL-Ab]. The aim of this work was to study the status of oxLDL and its autoantibodies among children with NS in relation to lipoprotein [a] [Lp[a]] as a proatherogenic factor and the antioxidant reduced glutathione [GSH] that reflects the oxidative stress in such syndrome. The study was conducted on 30 children with NS with a mean age of 8.9 k3.29 years from the Pediatric Nephrology Clinic of Alexandria University Children's Hospital. Twenty-two of them were in protein uric phase [Group I] and eight children were in remission [Group II]. For all patients and 10 healthy control children [Group III], plasma oxLDL and serum oxLDL-Ab by enzyme immunoassay, Lp [a] and blood GSH were quantified. Lipid profile, serum albumin, urea, creatinine and complement 3 [C3] were measured, in addition to quantitative determination of 24 h urine protein. All nephrotic cases in-group I had proteinuria, hypoalbuminemia and hypercholesterolemia. Hypertension was detected in 27% of them. There were statistically significant elevations of oxLDL and oxLDL-Ab in-group I when compared to controls and to those in remission [F0.003 and P=0.008 respectively]. Lp [a] was significantly elevated in group I and group II compared to controls [P=0.006]. Significant reduction of GSH was found in-group I compared to controls [P0.011]. In hypertensive nephrotic children, oxLDL and Lp [a] were significantly higher than normotensives [P 0.02 and P 0.04]. There was a significant positive correlation between oxLDL and oxLDL-Ab [P=0.00l]. Both OXLDL and oxLDL-Ab showed significant positive correlations with urine protein [F0.037 and F0.027 respectively] and significant negative correlations with blood GSH [P=0.046 and P0.001 respectively]. OxLDL-Ab showed positive correlation with plasma Lp [a] [P0.029]

Conclusion: nephrotic syndrome might be a consequence of an imbalance between oxidant and antioxidant activity leading to plasma accumulation of oxLDL that is known to induce atherosclerosis. Childhood NS is associated with an enhanced immune response to oxLDL, mirrored by the increased levels of oxFDL-Ab. These specific autoantibodies among other proatherogenic factors are likely to participate in atherogenesis and glomerular damage. The degree of oxidative damage reflected by the status of GSH, OXLDL and oxLDL-Ab would influence the response of NS to therapy

attack rate and associated risk factors of nephritis among sibling contacts of patients with symptomatic acute post- strepococcal glomerulonephritis

This study aimed at detecting the attack rate and the associated risk factors of nephritis among sibling contacts after the appearance in the family of an index case with acute poststreptococcal glomerulonephritis [APSGN]. The study subjects included 51 patients admitted to the Nehrology unit of Alexandria University Children's Hospital with the diagnosis of APSGN and their 75 sibling contacts aged more than 2 years. APSGN was mainly pharyngitis-associated with peak incidence at winter and autumn and male preponderance. Eighty eight percent of the patients belonged to families of low socioeconomic status. Sibling contacts were examined once within one week of admission of the index case. They were subjected to history taking and had a physical examination, urinalysis and appropriate cultures. Antistreptococcal antibody titers and serum C3 were determined. Among the 75 sibling contacts, 30 of them showed evidence of nephritis whether overt [4 children] and subclinical [26 children] giving an attack rate of 40%, and subclinical to clinical ratio of 6.5. Almost 66% of the affected siblings came from families with a crowding index <=2/room. Group A beta-hemolytic streptococci [GABHS] were isolated from 15.7% of the index cases and 26.7% of the sibling contacts. T-typing pattern of the isolated GABHS revealed the following nephrogenic types; T3, 6, 12, 8, 8125llmp.19 and 3/13/B3264. In 80% of cases, the same serotype was isolated from the index case and his or her sibling contacts

Conclusion: asymptomatic APSGN adds much to the load of nephritis in our country. Young children living in overcrowded families under low socioeconomic conditions are at high risk of developing nephritis after the appearance of an index case in the family, improving the housing conditions will help in decrease transmission of streptococci with subsequent decrease of the incidence of nephritis

Plasminogen activator inhibitor-1 and thromboembolic camplications in childhood nephrotic syndrome

Medical records of 523 nephrotic children followed up atAIexandria University Children's Hospital during the period from 1988 to 2002 were retrospectively studied for presence of clinically apparent thromboembolic complications [TECs]. Thirteen cases [2.5%] had evidences of 20 episodes of TECs. The frequency of TECs was 1.4% among steroid sensitive cases and 8.3% in steroid resistant cases. The TECs were predominantly venous [65%]. The most commonly affected vessels were; deep leg veins [45%]. Renal vein thrombosis was reported in 10% of the episodes. These cases were treated with heparin followed by oral anticoagulant therapy. The outcome was a full recovery in 8 patients and death in 5 patients. The commonest renal histopathology associated with TECs was MPGN. Moreover, we studied 50 children with nephrotic syndrome [NS] during their proteinuric phase. They included 10 cases with steroid resistant NS [SRNS], 20 with steroid dependent NS [SDNS] and 20 with infrequently relapsing NS. Plasminogen activity, plasma level of fibrinogen and plasminogen activator inhibitor-1[PAI-1] were measured in them and in 20 healthy control children. All studied nephrotic cases had proteinuria, hypoalbuminemia and hypercholesterolemia. Microcytic hypochromic anemia and high platelet count were evident in most cases. Fibrinogen levels were significantly elevated in all nephrotic groups [p< 0.005]. Plasminogen activity was in the normal range in all nephrotic groups. The means of PAH were significantly higher in all nephrotic groups than in the control group and in SRNS than other nephrotic groups [p< 0.005]. Elevated PAI-1 depresses tibrinolytic activity and thus increases the risk of thrombosis. We screened these cases for TECs by conventional and colored Doppler ultrasonography. Pulmonary perfusion scintigraphy was done in 6 cases with unexplained pulmonary symptoms. Two cases out of 50 [4%] developed TECs; the first had SDNS and got right femoral artery occlusion, the second had SRNS and developed left pulmonary embolism

Conclusion: TECs are life threatening complications of childhood NS. Their prevalence in our study was 2.5%. They are predominantly venous but can affect any vessel and might recur in the same patient. TECs can complicate any type of renal histopathology in childhood NS. The enhanced risk of TECs in nephrotic children is most likely a multitactorial problem, with hypoalbuminemia, hyperlipidemia, thrombocytosis, hyperfibrinogenemia and increased PAI-1 all playing a role. We recommend adequate evaluation of all children with active NS for presence of subclinical TECs to allow early treatment and thus prevention of morbidity and mortality caused by this serious complication