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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