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Biomedical subjects

A Bakkaloglu

Publications and source records attributed to A Bakkaloglu.

At least 73 records · Page 4Linked to original sources
PubMed1996

A case of Pearson syndrome associated with multiple renal cysts.

A 41-day-old infant who had severe metabolic acidosis, anemia, bleeding, hypoglycemia, and proximal tubulopathy was diagnosed with Pearson syndrome. Fibrosis in the liver, severe iron deposition in hepatocytes, and multiple renal cortical cysts were found on postmortem examination. Southern blot analysis of mitochondrial DNA obtained from peripheral blood revealed a heteroplasmic deletion of approximately 3.5 kilobases.

DNA, Mitochondrial↗
PubMed1996

Molecular basis of hereditary C1q deficiency associated with SLE and IgA nephropathy in a Turkish family.

Two siblings (case 1 and case 2) with homozygous C1q deficiency are described. Both presented with a photosensitive rash, and during follow-up case one developed SLE with nephrotic range proteinuria. Case 2 had microscopic hematuria with a past history of macroscopic hematuria. Renal biopsies revealed mesangioproliferative glomerulonephritis in case 1 and IgA nephropathy in case 2, a new finding in association with C1q deficiency. Since the classical pathway of complement plays a role in the development of antibody responses, the family was also evaluated for the immune response to hepatitis B vaccine. Antibody response to hepatitis B vaccine was normal in both affected members and the rest of the family. The A-, B- and C- chain genes of C1q were amplified by PCR and directly sequenced. A homozygous C to T point mutation was identified in genomic DNA isolated from the patients at codon 186 in the A chain that resulted in a premature stop codon. This mutation was present in both parents and both unaffected sibs in the heterozygous state. This mutation was identical to that previously described in a Slovakian family with C1q deficiency. Because of this finding, a series of 92 genomic DNA samples was screened from ethnically distinct patient groups with SLE to test the hypothesis that this mutation of C1q may be a widespread disease susceptibility gene. No further examples of this mutation were found.

Adolescent↗
PubMed1996

Comparison of ceftriaxone versus cefotaxime for childhood upper urinary tract infections.

It is very important to treat patients with upper urinary tract infections (UTIs) promptly and effectively because of the potential sequelae. In the present study we compare the efficacy of the two cephalosporins, ceftriaxone and cefotaxime, in childhood pyelonephritis. The study protocal included 10 days of drug therapy. Both in patients receiving ceftriaxone and cefotaxime, successful eradication was achieved at the second day of therapy. The overall cure rate was significantly better in the ceftriaxone group than the cefotaxime group in terms of recurrence and reinfections (p < 0.05). Furthermore, in the complicated group, ceftriaxone was slightly superior to cefotaxime, approaching significance in terms of preventing recurrent infections. No serious adverse effects were observed in either of the groups. The present study has shown that ceftriaxone exhibits favorable clinical and bacteriologic efficacy in patients with complicated and uncomplicated upper UTI. Once-daily injection of ceftriaxone in children is also an attractive advantage of the drug when compared to twice-daily cefotaxime.

Adolescent↗
PubMed1995

Familial membranoproliferative glomerulonephritis.

Four and two male sibs of two separate families who had biopsy-proven membranoproliferative glomerulonephritis (MPGN) are presented. In the first family four sibs of the first-degree consanguineous marriage showed the clinical picture of nephrotic syndrome without hypocomplementaemia at initial laboratory findings. In the second family two affected sibs showed nephrotic and nephritic syndromes on admission. Family investigations showed normal serum complement, immunoglobulins, T-cell subsets, urine analysis, and serum biochemistry. HLA typing in the two families revealed a common antigen HLA A2 in all affected sibs. Some other reports give suggestive evidence of MPGN in siblings but this is the first report that showed the occurrence of MPGN in four sibs. Our data strengthened the concept that genetic factors are involved in the development of MPGN but additional immunogenetic studies will shed light on the genetic aspects of the disease.

Adolescent↗
PubMed1994

Down syndrome associated with systemic lupus erythematosus: a mere coincidence or a significant association?

An 8-year-old male, who had Down syndrome associated with systemic lupus erythematosus (SLE), is described. He also had a partial complement 4 deficiency. This case is a reminder that the physician should be aware of the possibility of an immune defect in a male presenting with SLE at a young age. The question of whether the association of Down syndrome with SLE is coincidental or whether there is a predilection for autoimmune disorders in Down syndrome is discussed.

Child↗
PubMed1994

Serum concentration and urinary excretion of beta 2-microglobulin and microalbuminuria in familial Mediterranean fever.

Familial Mediterranean fever is characterised by recurrent and self limited attacks of fever and polyserositis and its devastating complication is the development of renal amyloidosis. In order to detect the presence of early glomerular and tubular damage in patients with familial Mediterranean fever and to assess the possible role of beta 2-microglobulin in the inflammatory attacks of this disease, serum and urine beta 2-microglobulin concentrations and microalbuminuria were evaluated in these patients. A total of 20 patients with familial Mediterranean fever were studied on and off colchicine treatment; seven of these patients developed a familial Mediterranean fever attack when they were off treatment. During the familial Mediterranean fever attacks serum beta 2-microglobulin concentrations decreased, whereas fractional excretion of beta 2-microglobulin, urine beta 2-microglobulin creatinine, and urine albumin/creatinine ratios increased. We conclude that glomerular and tubular functions deteriorate during the attacks. Further studies are needed to discover the effector(s) causing these transient glomerular and tubular disorders.

Adolescent↗
PubMed1994

Urinary tumor necrosis factor levels in primary glomerulopathies.

In the present study, urinary tumor necrosis factor-alpha (TNF) levels in nonproliferative glomerulopathies [minimal change disease (n = 4), focal glomerulosclerosis (n = 4), membranous glomerulonephritis (GN) (n = 1), and in patients with chronic glomerulopathies (n = 4)] were compared to proliferative ones [a rapidly progressive GN patient and 8 patients with mesangial proliferative GN and membranoproliferative GN (MPGN) who had clinically active disease]. The mean urine TNF levels of the proliferative group were significantly higher than both the nonproliferative GN and 4 controls, whereas the mean value of the nonproliferative group was not significantly different than the controls. The urine TNF levels in 4 MPGN patients with chronic disease and in 2 who entered remission were also very low. In the patients with active renal disease and cellular proliferation there were significant correlations between the urinary TNF levels and both proteinuria and the clinical activity scores. We suggest that in human proliferative glomerulopathies TNF may be implicated in the glomerular inflammation.

Adolescent↗
PubMed1992

Plasma atrial natriuretic peptide and endothelin levels in acute poststreptococcal glomerulonephritis.

Plasma levels of atrial natriuretic peptide (ANP) and of endothelin (ET) were significantly elevated (87.7 +/- 13.9 pg/ml and 79.7 +/- 10.8pg/ml, respectively) during the acute phase of acute poststreptococcal glomerulonephritis (APSGN). Plasma renin levels were normal, fractional excretion of sodium (FENa) was 0.5 +/- 0.1% and creatinine clearance (CCr) averaged 82.2 +/- 18.3 ml/min per 1.73 m2. In the recovery phase of the disease (n = 12), levels of ANP (23.6 +/- 6.7 pg/ml) and ET (43.1 +/- 2.4 pg/ml) fell and were not significantly different from those measured in 11 control subjects. FENa increased to 1.3 +/- 0.1% and CCr to 113.5 +/- 12.1 ml/min per 1.73 m2 (all values mean +/- standard error). ANP did not correlate with PRA, blood pressure, CCr or FENa. There was an inverse relationship between the ET level and FENa in the acute phase of the disease (r = 0.489, P < 0.05), but no significant correlation between ET and blood pressure, PRA, CCr or ANP was found. We suggest that, despite the sodium retention, the increased ANP level in APSGN indicates unresponsiveness of the kidneys to ANP; the increased ET levels may contribute to this.

Acute Disease↗
PubMed1992

Cranial nerve involvement in childhood polyarteritis nodosa.

Amongst a variety of neurological manifestations of childhood polyarteritis nodosa, cranial nerve involvement is unusual. We report 4 cases with cranial nerve palsies in a series of 36 biopsy-proven patients. Two cases presented with IIIrd nerve palsy alone, one with right IIIrd and left IVth nerve palsy, and one with peripheral VIIth nerve paresis. All 4 patients showed good response to prednisolone and cyclophosphamide treatment. Cranial nerve involvement in childhood polyarteritis nodosa seems not so rare when patients are followed on long term basis.

Biopsy↗
PubMed1992

Diagnostic criteria for polyarteritis nodosa in childhood.

Clinical and laboratory features of 31 children with a diagnosis of polyarteritis nodosa were evaluated retrospectively. All the patients had musculoskeletal involvement, renal involvement, or both during the course of the disease. We have defined involvement of these two systems as the major diagnostic criteria in polyarteritis nodosa. Ten additional minor criteria were defined: (1) cutaneous findings, (2) gastrointestinal involvement, (3) peripheral neuropathy, (4) central nervous system involvement, (5) hypertension, (6) cardiac involvement, (7) lung involvement, (8) constitutional symptoms, (9) presence of acute-phase reactants, and (10) presence of hepatitis B surface antigen. We propose that the presence of five of these criteria, including at least one major criterion, is highly suggestive of polyarteritis nodosa; such a combination was present in 97% of our patients. Fourteen of the patients were treated with corticosteroids alone and 14 were treated with a combination of steroids plus cyclophosphamide or azathioprine. At the last follow-up examination six patients in the steroid group and nine in the combination group were considered to have complete remission of disease or inactive disease with persisting symptoms in an organ system. The overall mortality rate was 16%; renal involvement had the greatest adverse effect on outcome. We suggest that in patients with five of the 12 diagnostic criteria, especially those with renal involvement, therapy should be initiated promptly while diagnostic procedures are being carried out.

Adolescent↗
PubMed1992

Clinical review of idiopathic versus hepatitis B surface antigen related forms of membranous glomerulonephritis.

Clinical features and therapeutical approaches in 10 cases of membranous glomerulonephritis (MGN) have been reviewed in an attempt to identify predictive indices of prognosis, and features distinguishing between idiopathic and hepatitis B surface antigen (HBsAg) related forms of glomerulopathy. Five of these children (age range 8-10 years) had HBsAg associated MGN and the other five (age range 12-16) lacking this antigen were defined as idiopathic MGN. The follow up was nine months to 10 years (mean 4.3 years). All had nephrotic syndrome during the course of their disease. There were no distinguishing clinical features nor any difference in the outcome between these two groups. None of the clinical findings including the presence of HBsAg, adversely affected outcome. All patients in the idiopathic group and three of the five in the HBsAg related group received immunosuppressive treatment. Overall complete remission was achieved in four of the five HBsAg associated patients and in three of the idiopathic patients plus partial remission in one of each group. Immunosuppressive treatment caused no complications, and beneficial results of the treatment particularly in the idiopathic MGN group were observed.

Adolescent↗