Browsing by Author "Erol, M."
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Article A Case of Bartter’s Syndrome Associated With Nephrocalcinosis Presenting With Tetany(2004) Ataş, B.; Çaksen, H.; Tuncer, O.; Kirimi, E.; Arslan, S.; Erol, M.; Yuca, S.A.A 10-year-old boy was admitted to hospital with a 3 month history of intermittent spasms of the wrists and ankles, and twitching of the eyelids. He also had polyuria, polydipsia, nocturnal enuresis, fatigue and constipation since he was a toddler. Physical examination revealed normal blood pressure, myokymia on the right eyelid and bilateral carpopedal spasms. Laboratory investigation revealed hypocalcemia, hypokalemia, increased plasma renin and aldosterone, hypercalciuria, metabolic alkalosis, and bilateral medullary nephrocalcinosis. Cranial computed tomography was normal. Based on the clinical and laboratory findings he was diagnosed as having Bartter’s syndrome, which is characterized by hypochloremia, hypokalaemia and metabolic alkalosis associated with potassium renal leakage, with normal blood pressure despite increased plasma renin activity. It is well known that tetany is not uncommon in the neonatal form of Bartter’s syndrome and nephrocalcinosis is usually not present in the classic form. Interestingly, our patient had both the clinical manifestations of the neonatal form and of the classic form of Bartter’s syndrome. In conclusion, we would like to emphasize that both the clinical manifestations of neonatal and classic forms of Bartter’s syndrome (as an overlapping syndrome) might be seen in children and that Bartter’s syndrome should also be considered in children with tetany as in our case. © 2004, IOS Press. All rights reserved.Article The Effect of 25-Hydroxyvitamin D3 on the Immune System(Freund Publishing House Ltd, 2009) Dogan, M.; Erol, M.; Cesur, Y.; Yuca, S.A.; Zehra Doǧan, S.Aim: To examine the effect of 25-OH vitamin D3 on the immune system in patients with nutritional rickets. Methods: Fifty-three patients were included in our study between April 2002 and March 2004. Diagnosis of rickets was based on clinical, biochemical and radiological examinations. Cell surface markers (CD), complement factors (C), and immunoglobulin (Ig) levels were determined to find out any relationship between rickets and immune system deficiency. Results: Among the causes of admission to hospital, fever (66%) and coughing (62.2%) were the most frequent. Pneumonia was accompanied by rickets in 47.1% of the cases. Plasma CD4 levels before the treatment were higher than those in the post-treatment period, whereas CD20 and CD56 levels were lower. Conclusion: B cell and natural killer cell reduction which occur because of vitamin D deficiency may contribute to the development of pneumonia and other infections in patients with nutritional rickets. © Freund Publishing House Ltd.Article Recurrent Multiple Hepatic Abscesses, Hepatic Calcification and Congenital Hearing Loss in a Child With Chronic Granulomatous Disease(2004) Çaksen, H.; Patiroǧlu, T.; Erol, M.; Poyrazoǧlu, M.H.Chronic granulomatous disease (CGD) is a rare inherited primary immunodeficiency in which phagocytes cannot destroy catalase-positive bacteria and fungi. In this article, we describe a 6-year-old boy with CGD associated with recurrent multiple hepatic abscesses, hepatic calcification and congenital hearing loss because of rare presentation. To the best of our knowledge, congenital hearing loss in CGD has not been reported in the literature. In the treatment of our patient, a combination of antibiotherapy, percutaneous drainage and surgical intervention was used, but multiple hepatic abscesses recurred during the follow-up. On account of this case, we would like to reemphasize that recurrent hepatic abscesses are frequently observed and difficult to treat in patients with CGD. Additionally, we would like to state that congenital hearing loss may be a part of the disease, or it may be coincidental. To clarify the last point, we suggest that all patients with CGD should be tested for hearing impairment.Article Report of a Turkish Girl With Andersen-Tawil Syndrome(IOS Press, 2006) Çaksen, H.; Ptacek, L.; Üner, A.; Fu, Y.-H.; Erol, M.; Anlar, O.; Sami Güven, A.The case is a 9-year-old girl with a history of syncope attacks for 6 years and recurrent paraplegia attacks for 1.5 years. She was diagnosed with epilepsy and was given valproate for the attacks, but no improvement was noted. Because of her paraplegia attacks, lasting between a few hours and 3 days, abnormal findings she was diagnosed with conversion. Her prenatal, natal and postnatal history was unremarkable, and her school performance was high. There was a close consanguinity between the parents. She had four healthy sibs. Her mother, maternal uncle and maternal grandmother had intermittent fatigue, numbness on the extremities. On physical examination, she had mild elongated face and dysmorphic changes on the hands. Muscle strength was normal on the upper extremities, but no muscle activity was noted on the lower extremities. She also had no response to touch and pain stimuli on the lower extremities. On laboratory investigation, serum electrolytes including potassium level, renal and liver function tests were normal. Glomerul filtration rate was 59 mL/min/m2. QTc interval was mild prolonged (0.45 seconds). Electromyographic examination was unremarkable. On DNA mutation analysis, no mutation of KCJN2 gene coding for Kir 2.1 protein was diagnosed. Her mother had normal serum electrolytes, but had prolonged QTc interval (0.46 seconds). Her father was completely normal for serum electrolytes and electrocardiographic examination. Unfortunately, maternal uncle and grandmother could not be examined. Based on the clinical and laboratory abnormalities she was diagnosed with Andersen-Tawil syndrome and given potassium supplementation. Her paraplegia and syncope attacks were markedly decreased after initiating potassium therapy. Now, she is in the 3rd year of follow-up. She is continued to use potassium and her paraplegia and syncope attacks noted only one attack a 2-3 months. © 2006 IOS Press. All rights reserved.