Bora Gülhan

Long-term results of disodium etidronate treatment in pulmonary alveolar microlithiasis.

Pulmonary alveolar microlithiasis (PAM) is a rare disease with alveolar microliths mainly composed of calcium phosphate. The gene responsible for the disease is SLC34A2, which encodes a type‐IIb sodium phosphate cotransporter, has been described recently. Treatment of this disease is not clearly defined. Disodium etidronate is a member of bisphonates and it has been administered in these patients due to its inhibitory effect on the precipitation of hydroxyapatite microcrystals. Here, clinical and radiological improvement of two patients with PAM who were treated with disodium etidronate for 9 and 11 years, respectively, are presented. The pathogenetic mechanism of this treatment on the genetic basis of disease is discussed. Pediatr Pulmonol. 2010; 45:514–517.

Gorham-Stout Syndrome with chylothorax: successful remission by interferon alpha-2b.

Gorham–Stout syndrome is a rare disease and most often recognized in children and young adults. Chylothorax is a serious complication of Gorham–Stout syndrome. The treatment of either Gorham–Stout syndrome or chylothorax is still a dilemma. We described a 9‐year‐old girl with Gorham–Stout syndrome and chylothorax who was admitted to our hospital because of dyspnea, orthopnea, and bone pain, and treated with interferon alpha‐2b. Pediatr Pulmonol. 2009; 44:613–615.

Different features of lung involvement in Niemann-Pick disease and Gaucher disease

BACKGROUND Niemann-Pick disease (NPD) and Gaucher disease (GD) are well-known lysosomal storage diseases. Respiratory system involvement is an important cause of morbidity and mortality in patients with NPD and GD. OBJECTIVES We tried to assess the clinical, radiological, and histological features of GD and NPD patients with lung involvement. METHODS We reviewed medical history, physical examination, radiological, and histological data of 10 NPD and 7 GD patients. RESULTS The most common respiratory symptoms were recurrent lung infection and dyspnea. Although lung examination results in 6 NPD patients were normal, they had lung involvement; 3 patients were diagnosed as NPD directly via lung biopsy during investigation of recurrent lung infection or interstitial lung disease. All GD patients but 1 had respiratory system symptoms at the time of diagnosis. Hepatopulmonary syndrome was present in 4 GD patients. A ground-glass pattern and atelectasis were 2 important high-resolution computed tomography features in the NPD and GD patients. Flexible bronchoscopy and bronchoalveolar lavage were used for emergency extraction of bronchial casts in 1 NPD patient. CONCLUSIONS Lung involvement in NPD and GD patients should be included in the differential diagnosis of interstitial lung disease. Besides interstitial appearance on HRCT, atelectasis related to bronchial cast and bronchiectasis are other radiological findings in these group of patients. Analysis of bronchoalveolar fluid and lung biopsy provide very important clues for diagnosis. Hepatopulmonary syndrome is an important vascular complication observed in GD patients.

Post-transplant hypertension in pediatric kidney transplant recipients

BackgroundThe aim of the study was to investigate the prevalence of post-transplant hypertension (HT) and to assess the blood pressure (BP) of transplanted children with possible risk factors.MethodsOffice and ambulatory blood pressure measurements were performed for each patient.ResultsTwenty-nine patients were included in the study, including 13 patients with newly diagnosed untreated HT according to the results of ambulatory blood pressure monitoring (ABPM). Fourteen patients were on antihypertensive medication, but only in five of these patients was the HT under control; nine patients receiving antihypertensive drugs had uncontrolled HT. Of the 29 patients, two had normotension without any antihypertensive drug(s). Standard deviation scores (SDS) of the nocturnal diastolic BP of the ABPM were positively correlated with the prednisolone dosage per kilogram (p = 0.013, r = 0.45) and negatively correlated with the time period after transplantation (p = 0.024, r = −0.41). Similarly, the SDS of the 24-h diastolic BP was positively correlated with the prednisolone dosage per kilogram (p = 0.006, r = 0.50) and negatively correlated with the time period after transplantation (p = 0.016, r = −0.44). Patients with alternate-day steroid treatment had lower nocturnal systolic (p = 0.016), nocturnal diastolic (p = 0.001) and 24-h diastolic (p = 0.008) SDS when compared to those receiving daily steroid medication.ConclusionThe prevalence of HT among children after renal transplantation was high among our patient cohort, and steroids had direct impact on nocturnal and diastolic BP.

An Unusual Presentation of Infantile Fibrosarcoma in a Male Newborn

We describe a 10-day-old male presenting with drop foot and immobility in his right leg; no abnormality in physical examination had been found upon delivery or discharge. Magnetic resonance imaging showed a pelvic mass with an extension to the great sciatic foramen. Fine-needle aspiration biopsy revealed congenital infantile fibrosarcoma. He was started on vincristine, actinomycin-D, cyclophosphamide chemotherapy. However, he died soon after the second cycle due to veno-occlusive disease of the liver. Differential diagnosis of drop foot and immobility in lower extremity must include infiltrating neoplasms in pelvis.

Follow-up results of patients with ADCK4 mutations and the efficacy of CoQ10 treatment

BackgroundADCK4-related glomerulopathy is an important differential diagnosis in adolescents with steroid-resistant nephrotic syndrome (SRNS) and/or chronic kidney disease (CKD) of unknown origin. We screened adolescent patients to determine the frequency of ADCK4 mutation and the efficacy of early CoQ10 administration.MethodsA total of 146 index patients aged 10–18 years, with newly diagnosed non-nephrotic proteinuria, nephrotic syndrome, or chronic renal failure and end-stage kidney disease (ESKD) of unknown etiology were screened for ADCK4 mutation.ResultsTwenty-eight individuals with bi-allelic mutation from 11 families were identified. Median age at diagnosis was 12.4 (interquartile range [IQR] 8.04–19.7) years. Upon first admission, all patients had albuminuria and 18 had CKD (6 ESKD). Eight were diagnosed either through the screening of family members following index case identification or during genetic investigation of proteinuria in an individual with a history of a transplanted sibling. Median age of these 8 patients was 21.5 (range 4.4–39) years. CoQ10 supplementation was administered following genetic diagnosis. Median estimated glomerular filtration rate (eGFR) just before CoQ10 administration was 140 (IQR 117–155) ml/min/1.73m2, proteinuria was 1,008 (IQR 281–1,567) mg/m2/day. After a median follow-up of 11.5 (range 4–21) months following CoQ10 administration, proteinuria was significantly decreased (median 363 [IQR 175–561] mg/m2/day, P=0.025), whereas eGFR was preserved (median 137 [IQR 113–158] ml/min/1.73m2, P=0.61).ConclusionsADCK4 mutations are one of the most common causes of adolescent-onset albuminuria and/or CKD of unknown etiology in Turkey. CoQ10 supplementation appears efficacious at reducing proteinuria, and may thereby be renoprotective.

Studying cytokines of T helper cells in the kidney disease of IgA vasculitis (Henoch–Schönlein purpura)

BackgroundImmunoglobulin A vasculitis (IgA-V), formerly known as Henoch–Schönlein purpura (HSP), is the most common small vessel vasculitis in children. In recent years, the role of T cells in the pathogenesis of HSP/IgA-V has become a focus of research.MethodsRenal biopsy specimens from 22 pediatric patients diagnosed with Henoch–Schönlein nephritis (patient group) were compared to normal renal tissue in nephrectomy specimens from 20 pediatric patients diagnosed with Wilms tumor (control group). All renal specimens were scored according to International Study of Kidney Disease in Children (ISKDC) and Oxford classification. Immunohistochemical analyses of interferon-gamma (IFN-γ), interleukin (IL)-4, IL-17 and FOXP3 expression were performed.ResultsAll glomeruli and tubules of the HSP/IgA-V patients showed significantly higher IFN-γ and IL-17 expression than those of the control group. Glomerular IFN-γ and IL-17 staining grades correlated with the urinary protein/creatinine ratio (r = 0.62, p = 0.02 and r = 0.507, p = 0.016, respectively). IL-17 expression also correlated with the percentage of crescents (r = 0.518, p = 0.014). IL-4 staining was present in only nine of the 22 patient biopsies and did not correlate with any of the parameters studied. Interstitial areas of patient biopsies had more FOXP3+ cells/μm2 than those of the control group (p < 0.001), but differences in glomerular and tubular FOXP3+ levels (cells/μm2) between the two groups were not statistically different. The ISKDC and Oxford scores did not correlate with any parameter studied. However, endocapillary hypercellularity did correlate with IFN-γ expression.ConclusionsBased on these results, we conclude that IFN-γ and IL-17 contribute to HSP/IgA-V in children.

Behçet disease: evaluation of clinical manifestations in Turkish children

Results In 54 patients the mean age at the first symptom was 117.50±45.20 months. BD was suspected at a mean age of 143.56±39.63 months. The mean delay between the first symptom and BD suspicion was 27.36±27.15 months. The most common manifestations were oral ulcer 96.3% (n=52), uveitis 46.3% (n=25), genital ulcer 37% (n=20), pustuler lesion 37% (n=20), erythema nodosum 24.1%(n=13) respectively. Bilateral uveitis was found in 27.8% (n=15) patients. Pathergy phenomen was positive in 37% (n=20) patients. Family history of BD was present in 38.9% (n=21) patients. HLA-B51 carrier rate was 53.7% (n=29). BSAS was assessed for the 52 patients in our cohort and a moderate correlation between the BSAS and PGA was demonstrated (r=0.305, p=0.025).

Extra-Renal manifestations of atypical hemolytic uremic syndrome in children

BackgroundAtypical hemolytic uremic syndrome (aHUS) is a chronic disease characterized by thrombotic microangiopathy and a high risk of end-stage kidney disease. Dysregulation and/or excessive activation of the complement system results in thrombotic microangiopathy. Interest in extrarenal manifestations of aHUS is increasing. This study aimed to determine the clinical characteristics of patients with extrarenal manifestations of aHUS in childhood.MethodsThis study included 70 children with extrarenal manifestations of HUS from the national Turkish aHUS Registry. The demographics, clinical characteristics, genetic test results, all treatments, and renal/hematologic status of aHUS patients with extrarenal involvement were recorded.ResultsThe most common extrarenal manifestation was neurological system involvement (n = 46 [27.2%]), followed by gastrointestinal (n = 20 [11.8%]), cardiovascular (n = 12 [7%]), and respiratory (n = 12 [7%]) involvement. The patients with neurological involvement had a higher mortality rate and a lower estimated glomerular filtration rate (eGFR) than the other patients at last follow-up. Eculizumab (with or without plasma exchange/plasma infusion) treatment increased the renal and hematologic recovery rates.ConclusionsThe most common and serious extrarenal manifestation of aHUS is neurological involvement and treatment outcome findings presented herein are important to all relevant clinicians.

Effects of blood transfusion on cytokine profile and pulmonary function in patients with thalassemia major.

Thalassemia major (TM) is characterized by abnormal hemoglobin synthesis, which results in decreased oxygen delivery to the tissues, ineffective erythropoiesis and iron overload. The purpose of this study was to find out the predominant type of lung mechanical abnormalities in TM patients, the prevalence of the change in pulmonary diffusing capacity and to search the association of cytokines with pulmonary function tests (PFTs).