MITOCHONDRIAL DISESES

 Mitochondrial encephalomyopathies constitute a broad group of disorders that were first described in the early 1960s, when systemic ultrastructural and histochemical studies revealed excessive proliferation of mitochondria of normal or ubnormal appearance in muscle from patients with weakness or exercise intolerance. knowledge of this group of disorder was gained following the introduction of the modified gomori trichrome stain, which revealed the presence of subsarcolemmal accumulation of mitochondria myopathy.
 However, although the central nervous system and skeletal muscle seemed to be the main "targeted" organs for mitochondrial disease, it soon became clear that patients might also present with atypical clinical phenotypes suggestive of the involvement of other organs.
 This may occur to such an extent that the phenotype is dominated by a non-encephalmoyopathic presentation. A
patient with sideroblastic anemia and renal proximal tubulopathy, characteristic of a DE Toni-Debre-Fanconi syndrome. Molecular genetic studies demonstrated the presence of unusual mitochondrial DNA (mtDNA) deletion. not flanked by direct repeate elements but by palindrome sequences, which most likely are responsible for the etiology of the deletion and the cause of the disease in the patient. 

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HYPERTENSION

Hypertension is commonly associated with Wilms tumor, but hypertension secondary to renin screting Wilms tumor is uncommon. We present an infant with severe hypertension and renin hypertension, which we resistant to multiple antihypertensive agents. blood pressure was eventually controlled with a combination of captopril and losartan.
Hypertension  in patients with Wilms tumor is relatively common. Sukarochana et al. reviewed 46 patients with Wilms tumor from the Children's hospital of pittsburgh and found that 63% had hypertension. Hypertension is usually due to intra renal ischemia secondary to compression of the normal renal vasculature, resulting in increased renin production. Nephrectomy normalized blood pressure in all cases. autonomous renin secretion by Wilms tumor has also been described. In some patients, hyponatremia may also occur. Silberman and blau reported a child who had a Wilms tumor, malignant hypertension, polydipsia, hyponatremia, and elevated levels of atrial natriuretic peptide ( ANP ). A number of others have also reported renin secreting Wilms tumors.
Although the devinitive management of renin producing Wilms tumors is nephrectomy, pre operative stabilization of blood pressure is essential for a successful outcome.

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ESSENTIAL FATTY ACID DEFICIENCY PROFILE IN PATIENTS WITH NEPRHOTIC RANGE PROTEINURIA

The term neprhrotic syndrome defines a clinical diagnosis characterized by the precence of massive proteinuria (>40 mg/m2/h) and hypoalbuminemia (<2.5 mg/dl). Dydlipidemia is frequently associated feature and includes high levels of  cholestrol, triglycerides, and lipoproteins due to enhanced hepatic synthesis. Plasma concentrations of low molecular weight apoproteins A-I and A-II are low due to increased urinary loss. The high production of atherogenic lipoproteins carries an elevated risk of cardiovascular damage in patients with long standing disease. it is also known that proteinuria is associated with renal endhotelial dysfunction, inflammation, and oxidative stress.

It is surpising that little attention has been paid to plasma fatty acid compotition in patients with nephrotic range proteinuria. Plasma free patty acids are bound to albumin, filtered through the glomeruli, and reabsorbed at the proxymal nephron by megalin mediated endocytosis. Therefore, It is reasonable to assume that if urinary losses are not compensated by increased dietary intake, an essential fatty acid (EFA) deficiency profile may develop in patients with long standing proteinuria.
A deficit of polyunsaturated fatty acid (PUFA), of both the w3 and w6 series, Was demonstrated in patients with immunoglobulin (lg) A nephropathy, but such deficit was attributed to nutritional rather than renal causes. the deficit of PUFA is of special interest because therapy of lgA nephropathy with PUFA w3, in the form of fish oil, has been recomended with the aim of decreasing proteinuria and improving glomerular filtration rate.

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IDIOPATHIC MEMBRANOUS NEPHROPATHY IN CHILDREN

Membranous nephropathy ( MN ) is a renal disease with distinct pathologic features of normocellular glomerular wall thickening and subepitthelial electron dense deposits. MN is a common cause of nephrotic syndrome ( NS ) in adult, but this occurs infrequently in children. Idiopathic MN, a form of MN without any associated systemic diseases used to be uncommon in korean children in whom hepatitis B virus ( HBV ) infection was endemic and HBV-associated MN ( HBV-MN) was the major cause of childhood MN. Moreover, since the introduction of the HBV vaccanation in children in 1985 the prevalence infection and of HBV-MN have been reduced remarkably. Idiophatic MN in still rare, but it now represents the major subset of childhood MN in korea. however, because of its rarity, its clinical course and apropriate treatment are relatively unknown. In adults, several controlled studies have recomended that immunosuppressive agents be administered to patients with NS or presistent nephrotic range proteinuria, although debate remains over the efficacy of the imunosuppressive treatment. moreover in children, the efficacies of imunosuppressive medication have not yet been verified.

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UTILITY of AMBULATORY BLOOD PRESSURE MONITORING IN CHILDREN and ADOLESCENTS

Ambulatory pressure measurement

Blood pressure ( BP ) measurement in children and adolescent can present can unique challenge to the clinician as interaction among the child, parent and clinician may induce errors in blood pressure measurement. the 1987 Working Group guidelines for blood measurement in children and adolescents outline the correct technique for accurate blood pressure measurement and where not changed in the most recent report in 2004. It should be noted that the 1987 Report of the Working Group on Blood Pressure Measurement in Children and adolescents in volved two important changes in blood pressure measurement. First it changed the definition of diastolic blood presure from use of phase 4 Korotkoff sounds to the use of phase 5 as is done in blood pressure measurement in adults. Secondly, this report also expanded the normative tables for blood pressure from the previous report to in corporate the impact height on normal values for blood pressure measurement. De Man et al. have shown that these normative values for European children are different than those for American children. Pooling information from six European studies ( Germany, France, Denmark and the Netherlands ) showed that the 95th precentile for men blood pressure was higher by 6 mm hg for systolic blood pressure ( SBP ) and 3 mm hg for diastolic BP ( DBP ) in both girl and boy. Menghetti and colleagues found the normal values for blood pressure for itlaian children differed from both the american data and also from the man's. Italian Children, with respect to the American standarts for the 90th and 95th percentiles were 3-8 mm hg higher for systolic and diastolic blood pressure in both sexes betwen 5 and 12 yearsof age and 2-3 mm hg higher in older males. Unique to the pediatric hypertension, diag nosis of hypertension requires both accurate blood pressure mesaurement and knowledge of the normal values of blod pressure in the population the clinicia is caring for.

Accurate blood pressure determination remains elusive in clinic practice. Unfortunately, it has been demonstrated that primary care physician or nurse rarely conform to the guidelines when measuring blood pressure in clinical practice. This may be due to failure to train these observers adequately as was noted by Grim and Grim as well as underemphasis of the importance of accurate blood pressure measurement in the literature. failure to follow the guidelines regarding patient positioning , such as sitting with back supported and feet on the floor, arm supported at heart level, appropriate size cuff applied, and use the mean of two or more blood pressure measurement, for the diagnosis of hypertension, can induce significant errors in blood measurement.

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VITAMIN D RECEPTOR GENE POLYMORPHISM IN HYPERCALCIURIC

Idiopathic hypercalciuria ( IH ) is an important risk factor for calcium oxalate nephrolithiasis. there appear to be two types: absortive hypercalciuria ( AH ), in which there is increased calcium ( Ca ) absorption from the gut, and renal hypercalciuria, in which the primary abnormality is decreased renal tubular Ca reabsorption. One of the potential mechanisms for the basic abnormality in AH is the primary increase in enterocyte Ca transport resulting in an increase in the serum Ca level and the renal filter load.

1,25-Dihydroxyvitamin D3 ( 1,25 ( OH )2D3 ) play a key role in the intestinal absorption of Ca and raises the serum Ca concentration. 1,25 ( OH ) 2D3 exerts its activity by binding the vitamin D receptor. The pathogenetic significance of 1,25 ( OH ) 2D3 in AH is not clearly defined. li et al. suggested that the increased Ca absorption is mediated by an increase in the number of intential VDR in genetic hypercalciuric rats. Zarwekh et al. reported increased VDR number in activited lymphocytes from some patients with AH who had normal 1,25 ( OH ) 2D3 levels.

The VDR gene consist of nine exon and has several polymorphism in intron 8 and exon 9. Recently, relationships between VDR gene polymorphism and Ca homeostasis have been addressed in some studies. Allelic variation in the VDR gene has been suggested as a partial explanation of diferential Ca absorption in premenopausal women. furthermore, the association of VDR gene polymorphism with Ca stones has been detected in several studies. since increased Ca absorption from the gut is believed to be involved in the pathogenesis of IH can be expected. The aim of this study was to investigate the association between VDR gene polymorphism and AH

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PESTISIDA BISA SEBABKAN TERJADINYA BAYI KEMBAR SIAM

Sebagian dari kita mungkin bertanya - tanya, apa sih penyebab terjadinya bayi kembar siam?
dr Edwin Basyar M Kes, Sp B, Sp BA ( dr spesialis bedah anak RSUP Dr Kariadi Semarang ) mengatakan bahwa ada beberapa faktor yang mempengaruhi bayi lahir dalam keadaan dempet pada bagian tubuh tertentu misalnya perut atau dada faktor tersebut diantaranya asupan gizi yang kurang, keturunan ( heriditer ), kontaminasi zat - zat radio aktif, radiasi dan pestisida.
pestisida inilah yang masuk kedalam tubuh kita tampa kita sadari, misalnya memakan sayur - sayuran dan buah - buahan segar yang tanpa tahu kandungan yang ada pada sayur dan buah tersebut. ( kata dr Edwin Basyar M Kes, Sp B, Sp BA dalam perbincangan dengan warta jateng diruang kerjanya ).
Bayi kembar siam dapat menimpa siapa saja, karna penyebabnya banyak dan zat penyebab itu bisa masuk ke pestisida pada sayur dan buah - buahan yang kita konsumsi.
kata dr Edwin "itu terjadi karena orang selalu mengejar sesuatu yang kelihatanya segar sehingga lupa akan kemungkinan kandungan pestisida pada sayur atau buah - buahan tersebut dan tidak mencucinya dengan sempurna untuk itu dr Edwin Basyar M Kes, Sp B, Sp BA menyarankan kepada para perempuan khusunya calon ibu, agar disaat hamil lebih baik mengkonsumsi sayuran matang ( dimasak ) dan buah yang sudah dicuci benar - benar bersih.
Bayi kembar siam terbentuk sejak proses pembuahan. Ketika satu sel telur dibuahi dua sperma, namun pembuahan ataupun pembelahannya tidak sempurna. Jika kondisi ini terjadi maka kemungkunan besar akan terjadi bayi kembar siam.
Dari hasil penelitian Kata dr Edwin Basyar M Kes, Sp B, Sp BA, bayi kembar siam yang paling sering muncul adalah pelekatan pada dinding dada ( torakofagus ) dan pelekatan pada dinding perut ( abdominofagus ).
oleh karena itu , pada wanita hamil jika masa kandungan sudah masuk fase pertama atau 3 bulan orang tua harus melakukan USG kehamilan agar mengetahui kondisi bayi yang dikandungnya apakah dia sehat atau terjadi kelainan. jika ada kelainan maka orang tua harus bertindak cepat untuk mengatasinya.
pemeriksaan kehamilan dengan USG memang banyak gunanya. Namun, karena tidak semua warga masyarakat bisa menikmati layanan USG ini, ada cara lain untuk mengetahui kondisi bayi. misalnya
meraba perut si Ibu hamil atau dari pengamatan bentuk perut ataupun pusar jika ditemukan keganjilan seperti perut membesar dan kemungkinan pencernaan sijanin tidak lancar . ketika meraba jika merasakan ada dua kepala atau bagian tubuh lainnya.maka hampir bisa dipastikanbayi dikandungan siibu hamil itu adalah bayi kembar dan jika terjadi seperti itu maka langsung bawa ke bidan atau puskesmas agar mendapat surat rujukan kerumah sakit. jika terjadi ganjalan dalam kandungan dan tidak memiliki biaya cukup silahkan ke puskesmas untuk diperiksa jika ada pemeriksaan lebih lanjut maka pihak puskesmas atau bidan dapat memberikan rujukan ke rumah sakit. ( kata dr Edwin Basyar M Kes, Sp B, Sp BA ).

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BODY COMPOSITION AND NUTRITIONAL INTAKE IN CHILDREN WITH CHRONIC KIDNEY DISEASE

BODY COMPOSITION AND NUTRITIONAL INTAKE IN CHILDREN WITH CHRONIC KIDNEY DISEASE

Accurate assessment of nutrition is an essential component in the management of children in chronic renal failure and post-renal transplantation. in children with chronic renal failure, protein-energy malnutrition is commonly encountered and its  etiology is multifactorial. in addition to anorexia and uraemia-associated effects, such as resistance to insulin and growth factors, hyperglucagonemia, hyperparathyroidism, or metabolic acidosis lead to a reduction in muscle mass and an acceleration of protein catabolism. recent studies have also shown the existence of a malnutrition-inflammation complex in which chronic inflammation leads to protein-energy malnutrition.
dietary intervention, ranging from oral supplementation to gastrostomy  feeding is therefore seen as fundamental step in the management of children with chronic renal failure.

   

Excessive weight gain in chronic kidney disease may also be associated with an increased risk of cardiovasculer morbidity. Althought the body mass index was developed as a reliable method of assessing body fat and nutritional status in public health studies. age-matched data have facilitated its use in childhood population studies and subsequently have increasingly been use to access nutritional status in children with chronic disease. however, its value in this setting, where children may also suffer from growth retardation has been questioned. in addition reduced levels of physical activity, and stage renal disease with the need for dialysis and immune-modulating therapy such as glucocorticoids may further confound the interpretation of body mass index. furthermore, it is increasingly being recognised that truncal obesity is associated with a higher risk of cardiovascular morbidity and, that body mass index by itself, has limited value in assessing regional body composition.

There is, therefore, a need to explore alternative tools that can be more reliably used as a measure of body composition   in the clinical setting of chronic kidney disease in children. Dual X-Ray energy absorptiometry is often used as relatively non-invasive and inexpensive method of as a assessing total and regional body composition and preliminary studies suggest that it may have a place in assessing body composition in children with chronic kidney disease. Ideally reference data of children should account for potential variables such as age. gender, sex, pubertal status and ethnicity but these are currently lacking. additionally, publish data have not examined the effect of short status on measures of body composition or reported regional changes.

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INFEKSI SALURAN KEMIH NEONATAL (ISKN)

 Pada tahun 1918 . HELMKOZ menyadari bahwa infeksi saluran kemih neonatal (ISKN) masih merupakan suatu penyakit yang terselubung dan diagnosisnya sering tidak dapat ditegakkan. pendapat ini masih diakui benar sampai sekarang. manifestasi klinik ISKN dapa berkisar dari bakteriuria saja asimptomatik sampai septikemia.

   bakteriuria lebih sering dijumpai pada bayi laki - laki daripada bayi permpuan dengan umur kurang dari 2 bulan. alasannya adalah kejadian ISKN jauh lebih banyak pada bayi laki - laki belum sirkumsisi; setelah sirkumsisi kejadian ISKN pada laki - laki sama dengan pada bayi wanita. tetapi terjadi peningkatan resiko ISKN dalam waktu 12 hari setelah sirkumsisi. Dua buah penelitian bayi yang umurnya kurang dari 3 bulan menunjukkan 22% sampai 38% dari bayi ISK terdapat kuman yang sama dalam darah dan dalam kandung kemihnya. hal tersebut menekankan penting dilakukannya kultur darah pada ISKN dan sebaliknya juga perlu melakukan biakan kemih pada bayi yang diduga sepsis.

   Infeksi saluran kemih terdapat 7,5 % bayi umur kurang dari 8 minggu yang ikterik, tidak demam dan tidak ada keluhan lainnya. ikterus neonatorum setelah umur lebih dari 8 hari atau terdapatnya kenaikan kadar fraksi bilirubin konjugasi cenderung menunjukkan adanya ISKN.

   Pada neonatus dengan serangan ISK pertama pada umur 8 minggu pertama terjadi defek korteks ginjal akut resiko uretral.

   Menegakkan diagnosis, pengobatan segera dan pengawasan lebih lanjut pada neonatus dengan infeksi saluran kemih adalah sangat penting dan kritikaldalam menghadapi faktor resiko kerusakan jaringan ginjalnya.

   Gejala Klinik bervariasi dari bakteremia asimptomatik sampai septisemia pada umumnya terdapat 4 macam pola gejala klinik sebagai berikut :

1. Bayi dengan tanda septisemia yang mulai awal ( dalam 5 hari pertama kehidupan ) atau penyakit mulai lambat ( setelah umur 5 hari )
2. Bayi dengan penyakit berlangsung lambat yang ditandai dengan demam ringan atau berat badan tidak bertambah.
3. Bayi tanpa gejala nyata.
4. Bayi dengan tanda - tanda infeksi lokal misalnya galanitis, prostalitis, urethritis, orchitis.

   Bayi dengan ISKN tidak akut , gejalanya adalah berat badan sukar bertambah, anoreksia, diare, muntah, demam, dan lain - lain.

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