Sare Gülfem Akyüz

Prevalence of MEFV gene mutations and their clinical correlations in Turkish children with Henoch–Schönlein purpura

Aim:  To investigate the frequency of MEFV mutations and their associations with the clinical and laboratory findings in children with Henoch–Schönlein purpura (HSP).

Hemolytic uremic syndrome triggered with a new pandemic virus: influenza A (H1N1)

Sirs, In April 2009, a new strain of human influenza A (H1N1) virus causing human disease was identified. Based on evidence of community transmission of this new strain from person to person in more than one of its regions, the World Health Organization (WHO) declared a pandemic in June 2009. We present a case of recurrent hemolytic uremic syndrome (HUS) in a patient who was admitted with a new attack triggered by influenza A (H1N1) virus infection. We also discuss the progression of the disease. A 15-year-old girl was admitted to our hospital in December 2009 with complaints of throat pain, fever, and nasal drip, followed by weakness, vomiting, and nonbloody diarrhea lasting for a few days. There were people with similar complaints in her vicinity. The patient had first been admitted to our hospital with HUS at the age of 4 years; at this time, her admittance was followed by 2 days of non-bloody diarrhea. She had completely recovered without dialysis treatment but had recurrences at 12, 13, and 14 years of age. However, during the attacks her serum creatinine levels did not exceed 2.65 mg/dl (Fig. 1). On physical examination she was pale and showed signs of dehydration, pharyngeal hyperemia, and postnasal discharge. Her arterial tension was 150/100 mmHg. Laboratory tests indicated severe anemia with findings of intravascular hemolysis and thrombocytopenia. She had 2+ proteinuria and microscopic hematuria on urinalysis. Serum creatinine was 5.1 mg/dl; blood urea nitrogen, 97 mg/dl; uric acid, 9.7 mg/dl; total protein, 6.6 g/dl; albumin, 3.3 g/dl; total bilirubin, 2.1 mg/dl; indirect bilirubin, 1.9 mg/dl; serum aspartate transaminase, 129 U/l; alanine transaminase, 27 U/l; lactate dehydrogenase, 847 U/l. Serum haptoglobin was <5 mg/dl (range 36–195 mg/dl). Prothrombin and activated partial thromboplastin times were normal. Throat, stool, urine, and blood cultures were negative. Serum complement 3 (C3) level was 0.979 g/l (normal range 0.83–1.77 g/l), C4 level were 0.256 g/l (normal range 0.12– 0.4 g/l). Serum antinuclear antibodies (ANA), anti-doublestranded (ds)DNA, and pand c-antinuclear cytoplasmic antibody titers were negative. She was diagnosed with HUS. Viral PCR analysis of the nasopharynx swab for the detection of influenza A (H1N1) was positive and believed to be the triggering factor of the HUS. She was started on oseltamivir therapy with an adjusted dose according to the degree of renal failure. Dialysis treatment was not initiated on the first day due to her history of improving without dialysis treatment in previous HUS attacks. She was given daily fresh frozen plasma infusions together with erythrocyte and platelet transfusions when necessary. Her serum creatinine value decreased the following day. Six days later, her serum creatinine level had decreased to 3.2 mg/dl, her uric acid level was 8.8 mg/dl, and her hemoglobin had increased to 9.3 g/dl and platelets to 48,000/mm. Daily fresh frozen plasma therapies were sustained until her renal function was normal. Oseltamivir treatment was completed at 7 days. On the 14th day following treatment initiation, her serum creatinine was 0.8 mg/dl, and all of her laboratory test results were normal. Atypical HUS (aHUS) has a poor prognosis, with approximately 50% of patients progressing to end-stage renal disease (ESRD). Several studies have confirmed a genetic predisposition to this disease that involves factors A. Çaltik (*) : S. G. Akyüz :Ö. Erdogan :G. Demircin Pediatric Nephrology Department, Dr Sami Ulus Children Hospital, Ankara, Turkey e-mail: acaltik@hotmail.com

Rare presentation of cystinosis mimicking Bartter's syndrome: reports of two patients and review of the literature.

We present here two girls with cystinosis initially diagnosed as Bartter syndrome. Both cases were admitted with hypokalemic, hypochloremic alkalosis. Their proximal tubular functions, ophthalmologic and bone marrow examinations were normal. They were started on therapies with the diagnosis of Bartter syndrome. The first patient developed signs of rickets, and the second patient was lost to follow-up and readmitted with chronic renal failure. On reevaluation cystine crystals were detected in cornea and bone marrow aspirates of both patients. We aimed to remind the rare presentation of cystinosis with metabolic alkalosis mimicking Bartter syndrome by these two cases and review the literature.

The association between urinary tract infection and idiopathic hypercalciuria in children.

Background: Identifying the risk factors is important in prevention of urinary tract infections (UTIs) in children. The aim of this study is to evaluate the association of UTI and idiopathic hypercalciuria (IHC). Methods: Two hundred and twenty-four children aged between 1 month and 16 years and diagnosed to have UTI were evaluated for urinary calcium excretion. The children were diagnosed to have IHC if their urinary calcium/creatinine ratios in at least two different spot urine samples were >0.6 between 0–1 year old and ≥0.21 over 1 year or daily calcium excretion >4 mg/kg. Results: The frequency of IHC was found to be 16.7%. Family history of urolithiasis, parental consanguinity, presentation with abdominal pain, loss of appetite, and discomfort were found to be significantly higher in the IHC group. No association was found between IHC and the recurrence of UTI, presence of vesicoureteral reflux, renal scar formation, and the prognosis. Conclusions: IHC should be considered among the risk factors for UTI and should be investigated particularly in patients with family history of urinary stones and suggestive complaints of IHC.

An unusual pediatric case with neurofibromatosis and systemic lupus erythematosus

Neurofibromatosis type 1 (NF1) is a relatively common autosomal dominant disorder affecting mainly ectodermal and mesodermal tissues. It is well known that patients with NF1 have an increased risk of developing benign and malignant tumors, but its association with autoimmune diseases has been rarely reported. Systemic lupus erythematosus is an autoimmune chronic inflammatory disease that has the potential to affect various organ systems. There are four cases with NF1 and SLE reported in the literature up to date. Here, we report a 9-year-old girl presenting with NF1 and SLE, and to our knowledge, this is the first childhood case in the literature.

The relation between treatment and prognosis of childhood membranoproliferative glomerulonephritis.

Abstract Background: The prognostic factors, the outcome and the most favorable treatment regimen are not entirely known for children with membranoproliferative glomerulonephritis (MPGN). MPGN is a rarely observed disease more prevalent in adolescents, so we aimed to review the clinical and histological properties, treatments and the outcome of our patients who were diagnosed as MPGN. Methods: Fifty-one children – diagnosed with MPGN – were selected from biopsy records in Dr. Sami Ulus Maternity and Childrens Hospital Pediatric Nephrology Department from January 1999 to January 2011. A retrospective analysis was made of 33 regularly followed children. Results: Thirty-three patients were identified, 13 female and 20 male. Their age groups at presentation ranged from 4 to 15 years. The following duration was 26–144 months (mean 74). Following the initial treatment, 20 (60%) patients achieved complete remission. Six patients with nephrotic syndrome and one with non-nephrotic proteinuria showed partial remission. The condition of one patient with nephrotic syndrome was unchanged with the persisting symptoms. The one patient with nephrotic syndrome and four others with non-nephrotic proteinuria did not respond to initial treatment as their renal functions decreased gradually. Conclusion: We concluded that only degree of tubulointerstitial damage on the initial biopsy is determinative for prognosis of childhood MPGN. If the patient receives high doses of steroid therapy in the early stages, their treatment is more likely to be successful. The effect of immunosuppressive treatment on MPGN is not clear.

Can intrauterine death of a co-twin result in renal failure in the survivor?

Multiple pregnancies are characterized by significantly higher rates of intrauterine and perinatal morbidities and fetal death compared to singleton pregnancies. It is well known that the death of a co-twin during the second and third trimester can cause damage in the other fetus. Here we report two newborn cases presenting with renal failure probably caused by intrauterine death of their co-twins shortly before birth.

Do Immunosupressive Patients Really have a Severe Outcome with H1N1 Virus Infection

Influenza virus is a common human pathogen that has the potential to cause widespread pandemics. The last pandemic began in April 2009 in CA, USA and killed about 14,000 people since then. The virus affects people at all ages, and school-aged children have the highest rates of infection. Chronic lung disease, immunosuppression and pregnancy are risk factors for seasonal influenza and pandemic influenza as well. Here, we report five immunosuppressive patients due to various diseases infected with H1N1 influenza and who were completely revealed after promptly treatment with oseltamivir.