The evaluation of growth and bone disease in children with renal transplantation

Bu çalısma RTX yapılan çocuklarda büyüme ve kemik metabolizması üzerine etkisi olan faktörlerin ve kemik belirteçlerinin degerlendirilmesi amacıyla 5-21 yas arasındaki 33 hasta ve 32 kontrol olguda gerçeklestirildi. Hastalarda pre-RTX dönemde en sık KBH nedeni VUR ve beraberinde YE (%30) idi. Pre- RTX KBH süresi 51.2±31.6 ay iken, RTX yapılma yası 12.7±2.5 yıl olarak bulundu. Hastaların RTX döneminde yaklasık %40 ında VA nın, yarısında ise boy uzunlugunun -2SD altında (<3p) oldugu görüldü. Post-RTX izlem süresi ortalama 45.9±30.9 ay olup, bu dönemde hastaların %18 inin (n=6) sadece CsA, %61 inin (n=20) sadece takrolimus aldıgı belirlendi. Bu dönemde kümülatif CS dozlarının post-RTX geçen süre uzadıkça, giderek azaltılarak düsük doz gün asırı uygulamaya geçilmesi nedeniyle göreceli olarak azaldıgı saptandı. Hastaların pre-RTX ve çalısma anı KMD z skorları arasında fark saptanmazken (p>0.05), her iki dönemde de KMD değerleri kontrol grubundan anlamlı düsüktü (p<0.001). Hastalarda post-RTX izlemde en düsük KMD skorlarının altıncı ayda saptandıgı, en iyi KMD skorlarına ise dördüncü yılda ulaşıldığı görüldü. Bununla beraber, hastalarımızda pre-RTX ve post-RTX dönemde hiçbir olguda kırık saptanmadı. Hastaların boy uzama hızlarının post-RTX ilk altı ayda en az oldugu, ikinci yıla dek giderek arttıgı ve besinci yıldan sonra ise en az düzeye indigi gözlendi. Post-RTX dönemde olguların %27 sinde (n=9) en az bir akut rejeksiyon (AR) atagı oldugu ve çalısma anına gelindiginde olguların %68 inde (n=22) graft disfonksiyonu oldugu görüldü. Çalısma anında hasta ve kontrol grubu arasında PTH ve 1,25 (OH)2 vitamin D açısından fark saptanmazken (p>0.05), 25 (OH) vitamin D nin hasta grubunda daha yüksek oldugu görüldü (p<0.001) ve bunun hastalara verilen vitamin D destegiyle iliskili oldugu düşünüldü Hastaların serum OPG düzeyi kontrol grubuna göre anlamlı yüksekti (p<0.001) ve bu durumun çogu hastada mevcut olan KBH sürecinin kemik üzerindeki olumsuz etkilerini kompanse etmeye yönelik oldugu düsünüldü. Hasta grubunun RANK-L düzeyi kontrollere göre düsük olmakla beraber her iki grup arasında fark saptanmadı (p>0.05). Hasta grubunda FGF-23 düzeyi kontrol grubuna göre yüksekti ve arada sınırda istatistiksel fark saptandı (p=0.054). Çalısma anına gelindiginde olguların %12 sinde (n=4) boy SDS sinin pozitif yönde degistigi, %24 ünde (n=8) ise halen -2.0 ın altında oldugu ve kontrollere göre hala anlamlı düşük oldugu görüldü (p0.05). Çalısmamızda OPG ile kümülatif CS dozları arasında pozitif ve KMD z skorları arasında negatif korelasyon saptandı. Post-RTX ikinci yıldan itibaren kümülatif CS dozları ile ikinci yıl ve sonrasındaki KMD degerleri arasında negatif korelasyon saptandı. Post-RTX boy SDS degerleri ile post-RTX tüm dönemlerdeki kümülatif CS tedavisi arasında güçlü negatif korelasyon vardı. Dolayısıyla CS tedavisinin basarılı RTX e ragmen belirgin büyüme geriline yol açtıgı, OPG nin ise özellikle KMD üzerinde belirleyici oldugu görüldü. Sonuç olarak bu konu ile ilgili daha genis hasta sayısını içeren çalısmalara ihtiyaç duyulsa da, hastalarımızda KBH tanısından itibaren erken dönemde RTX yapılmasının, post-RTX dönemde ise CS tedavisinin mümkün oldugunca düsük dozlarda tutulmasının büyüme ve kemik metabolizması üzerinde koruyucu olacagı düsünüldü.The bone metabolizm biomarkers (OPG, RANK-L, FGF-23, PTH, 25(OH)vitamin D and 1,25 (OH)2 vitamin D) of 33 renal transplanted children and 32 healthy controls at the same age interval were evaluated. Additionally the growth, cumulative CS doses annual bone mineral densitometry (BMD)scores were recorded.There was a negative correlation between both growth and CS doses and OPG and BMD scores. In conclusion OPG is a determinant on BMD and CS treatment should be minimized for maintaining optimum growth in renal transplanted childre

IgA Nephropathy and Psoriasis in a Child

Ig A nephropathy is the most common primary glomerulonephritis worldwide. Painless macroscopic hematuria is frequent in children and often coincides with infections of the upper respiratory tract and/ or digestive system. The distinctive carbohydrate side chains of IgA1 molecules play an important role in the pathogenesis of IgA nephropathy. Definitive diagnosis of IgA nephropathy requires evaluation of a renal biopsy specimen. Psoriasis is also a common childhood chronic skin disease with changes in epidermal differentation and proliferation. There are also a few literature reports on the co-existence of IgA nephropathy and psoriasis mainly in adult patients. Herein, we report a child with psoriasis who was diagnosed as Ig A nephropathy after periods of painless hematuria

Heavy Metal Exposure in Alport Syndrome in an Adolescent: A Case Report: Heavy Metal Exposure in Alport Syndrome

Alport syndrome is an inherited glomerular disease characterized by hematuria, proteinuria,hypertension, progressive kidney failure, hearing loss, and ocular pathologies. It is causedby a mutation in COL4A3, COL4A4, or COL4A5 genes. A lamellar or uniformly thinnedglomerular basement membrane is a pathognomonic histologic appearance for Alportsyndrome. Light microscopy shows nonspecific findings, including mesangial matrixexpansion and hypercellularity. Renal tubules are other main components of the kidney and themajor sites in response to injuries. They are vulnerable to various conditions, such as hypoxia,proteinuria, and nephrotoxic substances, including heavy metals, like lead and mercury.We demonstrated that a patient with asymptomatic Alport syndrome may have acceleratedworsening of kidney functions due to occupational exposure to lead and mercury. Regardingthe initial diagnosis with current clinical and laboratory findings in patients, it is noteworthythat there is always the possibility of another pathology, and additional investigations maybe needed. Besides, when considering public health issues and the financial burden due tooccupational diseases, we desired to draw attention to the importance and need to create saferwork environments and make frequent inspections

Successful treatment of a childhood synovitis, acne, pustulosis, hyperostosis and osteitis (SAPHO) syndrome with subcutaneous methotrexate: A case report.

Akçaboy M, Bakkaloğlu-Ezgü SA, Büyükkaragöz B, Isıyel E, Kandur Y, Hasanoğlu E, Buyan N. Successful treatment of a childhood synovitis, acne, pustulosis, hyperostosis and osteitis (SAPHO) syndrome with subcutaneous methotrexate: A case report. Turk J Pediatr 2017; 59: 184-188. SAPHO syndrome (synovitis, acne, pustulosis, hyperostosis and osteitis) is defined as a syndrome that is related to various osteoarticular manifestations and chronic dermatological conditions especially severe acne. SAPHO syndrome is a rare and unusual clinical entity in childhood and treatment choices are variable. We report an 11-year-old girl who suffered from SAPHO syndrome and successfully treated with subcutaneous methotrexate. We report our case in order to take attention to this rare clinical condition in evaluating patients and also to point out that treatment options beyond biologic agents should be the first line treatment in childhood

Sterile pyuria as the initial finding in a case with Kawasaki disease

Kawasaki disease is a multisystemic vasculitis of pediatric age group. Early diagnosis and treatment is crucial as coronary artery aneurysms may develop in 20-25% of untreated cases in the 2nd-3rd weeks of the disease. The most common urinary finding in the active period is sterile pyuria; which is believed to be a sign of a more severe systemic inflammation. In this study, a 3.5 year old boy who admitted with high fever was presented. As he had pyuria and elevated acute phase reactants, antibiotic treatment was started with a pre-diagnosis of acute pyelonephritis. Later, with the persistence of fever, detection of a negative urine culture result and emergence of dermal, mucosal and conjunctival changes, incomplete Kawasaki disease (KD) was diagnosed. In conclusion, it should be remembered that prolonged fever with sterile pyuria can be the initial findings in KD; before the emergence of typical lesions

Cerebral Vasculitis in Henoch-Schönlein Purpura: A Case Report.

Henoch-Schönlein purpura is a common form of systemic small vessel vasculitis in childhood. Although headache and behavioral changes have been described in a significant proportion of children with Henoch-Schönlein purpura, severe neurological complications are rare. In this article, we report a case of central vasculitis in a four-year-old boy who presented with hemiplegia and aphasia. The treatment options for cerebral vasculitis of Henoch-Schönlein purpura are numerous but controversial in pediatric patients. Our patient was successfully treated by pulse methylprednisolone and pulse cyclophosphamide. The patient was followed-up for four years without any sequel

A Novel Mutation in the Avpr2 Gene Causing Congenital Nephrogenic Diabetes Insipidus

Objective: Congenital nephrogenic diabetes insipidus (CNDI) is a rare inherited disorder characterized by a renal insensitivity to arginine vasopressin (AVP). In the majority of the cases, CNDI is caused by mutations in the arginine vasopressin receptor 2 (AVPR2) gene. Our objective is to report a novel mutation in the AVPR2 gene causing CNDI in a 6-year-old boy, presenting with growth failure and dull normal cognitive functions. Methods: The proband was the third off-spring of non-consanguineous parents and had polyuria (4.3 L/day), polydipsia (5 L/day). The diagnosis of CNDI was established by a water-deprivation test and a desmopressin challenge test. Genetic studies were also carried out in the mother, siblings and affected family members, since excessive fluid intake and diuresis were also reported in these individuals. All exons of the AVPR2 gene for all participants were amplified and sequenced. Bioinformatics analysis for wild-type and mutant AVPR2 were obtained with Swiss-Model and UCSF Chimera 1.10.2. Results: A novel, hemizygous, missense mutation was identified at the position 80th in exon 2 (p.H80Y) of AVPR2 in the proband. The proband’s mother, maternal aunt and grandmother were heterozygous and his maternal uncle was hemizygous for this mutation. Bioinformatic analysis indicates this mutation would cause significant conformational changes in protein structure. Conclusion: p.H80Y mutation will cause inappropriate folding of the protein compromising water homeostasis via AVPR2 and AVP and leading to diabetes insipidus. We suggest that future functional investigations of the H80Y mutation may provide a basis for understanding the pathophysiology of the NDI in patients with this variant.PubMedWoSScopu

Basal damage and oxidative DNA damage in children with chronic kidney disease measured by use of the comet assay

One consequence of chronic kidney disease (CKD) is an elevated risk for cancer. There is sufficient evidence to conclude that there is an increased incidence of at least some cancers in kidney-dialysis patients. Cancer risk after kidney transplantation has mainly been attributed to immunosuppressive therapy. There are no data evaluating DNA damage in children with CKD, in dialysis patients, or following kidney transplantation. In this study, the comet assay and the enzyme-modified comet assay - with the use of endonuclease III (Endo III) and formamidopyrimidine glycosylase (FPG) enzymes - were conducted to investigate the basal damage and the oxidative DNA damage as a result of treatment in peripheral blood lymphocytes of children. Children at various stages of treatment for kidney disease, including pre-dialysis patients (PreD) (n = 17), regular hemodialysis patients (HD) (n = 15), and those that received kidney transplants (Tx) (n = 17), comprised the study group. They were compared with age- and gender-matched healthy children (n = 20) as a control group. Our results show that the %DNA intensity, a measure of basal damage, was significantly increased in children with CKD (mean +/- SD) (5.22 +/- 1.57) and also in each of the PreD, HD, and Tx groups [(4.92 +/- 1.23), (4.91 +/- 1.35), and (5.79 +/- 1.94), respectively, vs the healthy children (2.74 +/- 2.91) (p < 0.001). Significant increases in oxidative DNA damage were only found in the FPG-sensitive sites for the PreD and Tx groups, compared with control and HD groups (p < 0.05), suggesting that basal DNA damage was more evident for the PreD, HD, and Tx groups. The findings of the present study indicate a critical need for further research on genomic damage with different endpoints and also for preventive measures and improvements in treatment of pediatric patients, in order to improve their life expectancy. (C) 2011 Elsevier B.V. All rights reserved