Browsing by Author "Şahin G.E."

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    A case of henoch-schönlein purpura with P369S mutation in MEFV gene
    (Brieflands, 2011) Ertan P.; Tekin G.; Şahin G.E.; Kasirga E.; Taneli F.; Kandioǧlu A.R.; Sözeri B.
    Background: Henoch-Schönlein purpura (HSP) is the most common vasculitis of childhood. HSP can affect multiple organs presenting with a characteristic rash in most of the patients. Familial Mediterranean Fever (FMF) is an inherited inflammatory disease common in mediterranean populations. HSP is the most common vasculitis seen in children with FMF. Case Presentation: A 16 year old boy was referred with history of abdominal pain lasting for 20 days. He was hospitalized and had appendectomy. Due to the persistence of his abdominal pain after surgery he was admitted to our hospital. His physical examination showed palpable purpuric rashes symmetrically distributed on lower extremities. Abdominal examination revealed periumbilical tenderness. Laboratory tests showed elevated erythrocyte sedimentation rate, C-reactive protein and fibrinogen. Urinalysis revealed microscopic hematuria and severe proteinuria. The fecal occult blood testing was positive. Based on these clinic findings, the patient was diagnosed as HSP with renal, gastrointestinal tract and skin involvement. We performed DNA analysis in our patient because he had diagnosis of vasculitis with severe symptoms and found that he was carrying heterozygote P369S mutation. Conclusion: Our case is noteworthy as it indicates that it may be important not to overlook presence of FMF mutations in patients with a diagnosis of severe vasculitis. © 2011 by Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, All rights reserved.
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    Primary polydipsia case presenting with severe malnutrition; [Aǧır beslenme bozukluǧu ile başvuran birincil polidipsi olgusu]
    (Kare Publishing, 2013) Şahin G.E.; Zorlu P.; Çaylan N.D.; Uçar Ş.; Açoǧlu E.A.; Şahin G.
    Primary polydipsia is a clinical status with excessive fluid consumption without any physiological need. A seventeen-month-old male infant with severe malnutrition and developmental retardation was found to have polyuria and polydipsia in the follow-up. The urine density was found to be 1001, Na was found to be 124 mEq/L and the serum and urine osmolarity was found to be low. The patient was diagnosed with primary polydipsia and was treated by gradually water restriction. This case is presented to emphasize that primary polydipsia changes nutritional habits which may lead to malnutrition and developmental retardation.
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    Triple A syndrome with clinical and genetic findings: A case report; [Klinik ve genetik bulgulari ile triple A sendromu: Bir vaka takdimi]
    (Cocuk Sagligi ve Hastaliklan Dergisi, 2014) Appak Y.Ç.; Çam F.S.; Şahin G.E.; Uluçay S.; Huebner A.; Kasirga E.
    Triple A syndrome (Allgrove syndrome) is a rare autosomal recessive disease characterized by achalasia, alacrima, adrenal insufficiency, and progressive neurological syndrome. This syndrome is caused by mutations in the achalasia-addisonianism-alacrima syndrome (AAAS) gene in the chromosome 12q13 region. We present a nine-year-old boy who had vomiting and progressive dysphagia since six years of age. Achalasia was determined with barium esophagography and esophagus manometric investigation. He had positive Schirmer test (<5 mm) and bilateral optic disc atrophy. The patient's serum cortisol levels were normal and cortisol response was low with ACTH stimulation test. Genetic analysis revealed a homozygous mutation (c.1066-1067delCT) in exon 11 of the AAAS gene, and her younger brother and sister were heterozygous carriers of this mutation. For treatment of achalasia, calcium channel blocker therapy was started, and botulinum toxin was applied to the distal esophagus. The patient's vomiting decreased but continued; his symptoms resolved after the implementation balloon dilation of the esophagus. © 2014, Cocuk Sagligi ve Hastaliklan Dergisi. All rights reserved.