A case of Type 1 Dent disease presenting with isolated persistent proteinuria.

Dent disease is a rare X-linked recessive tubular disorder, characterized by the triad of low molecular-weight proteinuria, hypercalciuria, nephrocalcinosis and/or nephrolithiasis. It is caused by mutations in the gene or gene. Thirty to 80% of affected males develop end-stage kidney disease between the ages of 30 and 50 years.

Similarities between pediatric FMF patients with sacroiliitis and pediatric juvenile spondyloarthropathy patients with sacroiliitis: a preliminary study.

: Familial Mediterranean fever (FMF) is an autosomal recessive disease characterized by recurrent, self-limited attacks of fever with serositis. Acute recurrent arthritis is the most common form of musculoskeletal involvement in FMF; however, ≤5% of FMF patients can develop chronic arthritis, including sacroiliitis. It is difficult to determine if sacroiliitis is a musculoskeletal finding of FMF or if they are concomitant diseases-FMF and juvenile spondyloarthropathy (JSpA).

A retrospective analysis of children with Henoch-Schonlein purpura and re-evaluation of renal pathologies using Oxford classification.

Background: Henoch-Schönlein purpura (HSP) is the most common vasculitis in childhood. The long-term prognosis is variable and depends on renal involvement. The aims of this study were to investigate the clinical and laboratory characteristics of our HSP patients, to identify the risk factors for the development of Henoch-Schönlein purpura nephritis (HSPN) and to assess the efficacy of the Oxford Classification system for predicting renal outcomes.

MEFV gene mutations in children with Henoch-Schönlein purpura and their correlations-do mutations matter?

Objective: To explore the frequency of MEFV gene mutations in children with Henoch-Schönlein purpura who had no prior familial Mediterranean fever diagnosis and to evaluate the association of MEFV mutations with the clinical and laboratory features of Henoch-Schönlein purpura.

Methods: Data of 1120 patients diagnosed with Henoch-Schönlein purpura were reviewed retrospectively. The spectrum and degree of organ involvement and acute phase reactant levels were documented for each patient.

Canakinumab treatment in children with familial Mediterranean fever: report from a single center.

Familial Mediterranean fever (FMF), the most common hereditary autoinflammatory disorder is characterized by recurrent episodes of fever, serositis, arthritis. The major long-term result is amyloidosis. Colchicine remains the principle of the treatment; it not only prevents the acute attacks but also prevents the long-term complications such as amyloidosis; 5-10% of the patients are unresponsive to treatment.

Publisher Correction: Evaluation of the level of dynamic thiol/disulphide homeostasis in adolescent patients with newly diagnosed primary hypertension.

Owing to an error in typesetting, the name of the author Atilla Halil Elhan was rendered wrongly. The original publication has now been corrected in this respect.

Evaluation of the level of dynamic thiol/disulphide homeostasis in adolescent patients with newly diagnosed primary hypertension.

Background: Thiol/disulphide homeostasis plays a critical role in numerous intracellular enzymatic pathways including antioxidant defense and detoxification. This study was designed to investigate the impact of thiol/disulfide homeostasis in adolescent patients with recently diagnosed primary hypertension (HT) using a novel and automated method.

Methods: Native thiol/disulphide levels were measured by a novel spectrophotometric method (Cobasc 501, Roche Diagnostics, Mannheim, Germany) in 30 patients with primary HT together with 30 healthy controls.

Pulmonary hemorrhage, a rare complication in a girl with Henoch-Schönlein purpura.

Henoch-Schonlein purpura (HSP) is the most common vasculitis in children. Vasculitic processes can involve the lung. Although diffuse alveolar hemorrhage may be seen as one of the manifestation of HSP, it is not a frequent presentation.

Hemophagocytic lymphohistiocytosis secondary to Varicella zoster infection in a child with Henoch-Schönlein purpura.

Hemophagocytic lymphohistiocytosis (HLH) is a fatal, hyper-inflammatory syndrome that is characterized by untimely activation of macrophages, and manifests as cytopenia, organ dysfunction, and coagulopathy. Secondary HLH can be associated with infection, drugs, malignancy, and transplantation, and is mostly triggered by infection. Herein, we report the case of a patient with Henoch-Schönlein purpura (HSP) who developed severe HLH secondary to Varicella zoster infection.

Incidence of maternal vitamin D deficiency in a region of Ankara, Turkey: a preliminary study.

Background/aim: To evaluate vitamin D levels and risk factors for vitamin D deficiency in healthy newborns and their mothers.

Materials And Methods: Ninety-nine healthy pregnant women (≥ 37 weeks of gestation) were enrolled in the study. Previous history of pregnancies and births, nutritional status, multivitamin supplementation, educational status, type of clothing, and the economic level of the family were recorded.

Acute tubulointerstitial nephritis: a case series and long-term renal outcomes.

Acute tubulointerstitial nephritis (TIN) is a common cause of acute renal impairment, characterized by the infiltration of inflammatory cells in the interstitium of the kidney. We retrospectively reviewed the medical records of 19 acute TIN patients attended to our Pediatric Nephrology department between April 1999 and April 2014. Nineteen patients (7 boys and 12 girls) were evaluated.

Interleukin-1 targeting treatment in familial Mediterranean fever: an experience of pediatric patients.

Objectives: The aim of this report was to evaluate and discuss treatment of pediatric familial Mediterranean fever (FMF) patients with anti-interleukin1 (IL-1) agents.

Methods: Refractory or colchicine unresponsive FMF was described as severe and frequent attacks and/or having high acute phase reactance levels despite having a maximum dose of colchicine (2 mg/day). Disease course, adverse effects, duration of follow-up, treatment protocols, responses to the therapies were discussed.

Clinical characteristics of paediatric neuro-Behçet's disease: a single tertiary centre experience.

Objectives: To investigate the demographic and neurological features and treatment modalities of neuro-Behçet's disease (NBD) in children, to share our experiences and to summarise the literature.

Methods: We retrospectively reviewed the medical records of Behçet's disease (BD) patients who attended our paediatric rheumatology department between December 2005 and October 2013. Five patients had the diagnosis of NBD.

Cytomegalovirus-related hemorrhagic cystitis in an immunocompetent child.

Cytomegalovirus (CMV) infections are mostly seen in immunocompromised patients. However, unusual manifestations or complications of acquired CMV infections in immunocompetent patients are rarely reported. CMV-related hemorrhagic cystitis is extremely rare but should be considered even in immunocompetent patients.

Juvenile polyarteritis nodosa associated with toxoplasmosis presenting as Kawasaki disease.

Polyarteritis nodosa (PAN) is a vasculitis characterized by inflammatory necrosis of medium-sized arteries. Juvenile PAN and Kawasaki disease (KD) both cause vasculitis of the medium-sized arteries, and share common features. They have overlapping clinical features.

Eculizumab therapy in a child with hemolytic uremic syndrome and CFI mutation.

Background: Hemolytic uremic syndrome (HUS) is the most common cause of acute renal failure in childhood. It usually occurs after a prodromal episode of diarrhea and it leads to significant morbidity and mortality during the acute phase. However, cases that start as diarrhea-positive HUS whose renal function fail to recover should be screened for genetic disorders of the complement system, which is called atypical HUS (aHUS).