Characteristics and predictors of chronic kidney disease in children with myelomeningocele: a nationwide cohort study.

BACKGROUND: Myelomeningocele (MMC) is highly prevalent in developing countries, and MMC-related neurogenic bladder is an important cause of childhood chronic kidney disease (CKD). This nationwide study aimed to evaluate demographic and clinical features of pediatric patients with MMC in Turkey and risk factors associated with CKD stage 5. METHODS: Data from children aged 0-19 years old, living with MMC in 2022, were retrospectively collected from 27 pediatric nephrology centers. Patients > 1 year of age without pre-existing kidney abnormalities were divided into five groups according to eGFR; CKD stages 1-5. Patients on dialysis, kidney transplant recipients, and those with eGFR < 15 ml/min/1.73 m2 but not on kidney replacement therapy at time of study constituted the CKD stage 5 group. RESULTS: A total of 911 (57.8% female) patients were enrolled, most of whom were expectantly managed. Stages 1-4 CKD were found in 34.3%, 4.2%, 4.1%, and 2.4%, respectively. CKD stage 5 was observed in 5.3% of patients at median 13 years old (range 2-18 years). Current age, age at first abnormal DMSA scan, moderate-to-severe trabeculated bladder on US and/or VCUG, and VUR history were independent risk factors for development of CKD stage 5 (OR 0.752; 95%; CI 0.658-0.859; p < 0.001; OR 1.187; 95% CI 1.031-1.367; p = 0.017; OR 10.031; 95% CI 2.210-45.544; p = 0.003; OR 2.722; 95% CI 1.215-6.102; p = 0.015, respectively). Only eight CKD stage 5 patients underwent surgery related to a hostile bladder between 1 and 15 years old. CONCLUSION: MMC-related CKD is common in childhood in Turkey. A proactive approach to neurogenic bladder management and early protective surgery in selected cases where conservative treatment has failed should be implemented to prevent progressive kidney failure in the pediatric MMC population in our country.

Rituximab treatment for difficult-to-treat nephrotic syndrome in children: a multicenter, retrospective study

Background/aim: This study aimed to evaluate the efficacy of rituximab in children with difficult-to-treat nephrotic syndrome, considering the type of disease (steroid-sensitive or ­resistant) and the dosing regimen. Materials and methods: This multicenter retrospective study enrolled children with difficult-to-treat nephrotic syndrome on rituximab treatment from 13 centers. The patients were classified based on low (single dose of 375 mg/m2) or high (2-4 doses of 375 mg/m2) initial dose of rituximab and the steroid response. Clinical outcomes were compared. Results: Data from 42 children [20 steroid-sensitive (frequent relapsing / steroid-dependent) and 22 steroid-resistant nephrotic syndrome, aged 1.9­17.3 years] were analyzed. Eleven patients with steroid-sensitive nephrotic syndrome (55%) had a relapse following initial rituximab therapy, with the mean time to first relapse of 8.4 ± 5.2 months. Complete remission was achieved in 41% and 36% of steroid-resistant patients, with the median remission time of 3.65 months. At Year 2, eight patients in steroid-sensitive group (40%) and four in steroid-resistant group (18%) were drug-free. Total cumulative doses of rituximab were higher in steroid-resistant group (p = 001). Relapse rates and time to first relapse in steroid-sensitive group or remission rates in steroid-resistant group did not differ between the low and high initial dose groups. Conclusion: The current study reveals that rituximab therapy may provide a lower relapse rate and prolonged relapse-free survival in the steroid-sensitive group, increased remission rates in the steroid-resistant group, and a significant number of drug-free patients in both groups. The optimal regimen for initial treatment and maintenance needs to be determined.

Does maternal diet affect infantile colic?

OBJECTIVE: The aim of this study was to investigate the effect of maternal diet on infantile colic without any interventions or food restrictions. METHODS: Thirty colicky and 29 non-colicky infants were included in this prospective study. Mother's diet and baby crying time were recorded for 1 week by mothers; nutritionist classified contents of mother's diet and compared the diet of mother in colicky and non-colicky infants. RESULTS: It was found that mothers of non-colicky infants consumed significantly more grapes and lemons than mothers of colicky infants (p = 0.044). The crying time was moderately negatively correlated with the percentage of protein in the maternal diet (R = -0.45, p = 0.01) and the presence of potatoes in the maternal diet (R = -0.38, p = 0.034) and positively correlated with the maternal consumption of walnut (R = 0.38, p = 0.034), banana (R = 0.44, p = 0.01). CONCLUSIONS: Removing bananas from the maternal diet may reduce colic. The consumption of a protein-rich maternal diet, grapes, lemons and potatoes by breastfeeding mothers may protect infants from colic.

Acute appendicitis in two children with Henoch-Schönlein purpura.

In Henoch-Schönlein purpura (HSP), involvement of the ileum and ascending colon with vasculitis can mimic appendicitis and cause unnecessary appendicectomy. A 13-year-old boy presented with signs of HSP and abdominal pain. He was treated with prednisolone (2 mg/kg/day) for 10 days, but there was no improvement. At laparotomy he had acute suppurative appendicitis. A 12-year-old girl presented with HSP associated with abdominal pain and bloody diarrhoea and at laparotomy was also found to have suppurative appendicitis. Both patients had vasculitic areas in the ileum. In HSP, although suppurative appendicitis is rare, it should always be considered and appropriate investigations, including ultrasonography, undertaken.

Rapidly progressive renal disease as part of Wolfram syndrome in a large inbred Turkish family due to a novel WFS1 mutation (p.Leu511Pro).

Wolfram syndrome, also named "DIDMOAD" (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness), is an inherited association of juvenile-onset diabetes mellitus and optic atrophy as key diagnostic criteria. Renal tract abnormalities and neurodegenerative disorder may occur in the third and fourth decade. The wolframin gene, WFS1, associated with this syndrome, is located on chromosome 4p16.1. Many mutations have been described since the identification of WFS1 as the cause of Wolfram syndrome. We identified a new homozygous WFS1 mutation (c.1532T>C; p.Leu511Pro) causing Wolfram syndrome in a large inbred Turkish family. The patients showed early onset of IDDM, diabetes insipidus, optic atrophy, sensorineural hearing impairment and very rapid progression to renal failure before age 12 in three females. Ectopic expression of the wolframin mutant in HEK cells results in greatly reduced levels of protein expression compared to wild-type wolframin, strongly supporting that this mutation is disease-causing. The mutation showed perfect segregation with disease in the family, characterized by early and severe clinical manifestations.

A case of idiopathic intracranial hypertension related with vesicoureteral reflux.

Pseudotumor cerebri is idiopathic intracranial hypertension. The etiology of this syndrome has not been fully clarified. Excess cerebrospinal fluid production, scarcity of cerebrospinal fluid absorption, intracranial venous pressure elevation, increased intracranial blood volume are all thought to be responsible. The symptoms of the disease may be ordered according to prevalence as follows: headache due to increased intracranial pressure, blurred vision and diplopia. A thirteen-year-old female patient was brought in with complaints of headache, double and blurred vision. Systemic arterial hypertension (140/70 mmHg) was determined. Vesicoureteral reflux was detected as the hypertension etiology. In this article a rare pseudotumor cerebri case is presented secondary to vesicoureteral reflux which caused hypertension.

Clinical features and prognosis with Guillain-Barré syndrome.

BACKGROUND: Guillain-Barré syndrome (GBS) is an acute inflammatory polyneuropathy commonly characterized by rapidly progressive, symmetric weakness and areflexia. MATERIALS AND METHODS: We retrospectively assessed the clinical manifestations, results of electrodiagnostic tests, functional status and prognosis of 36 children diagnosed with GBS. RESULTS: Based on clinical and electrophysiological findings, the patients were classified as having acute inflammatory demyelinating polyradiculoneuropathy (AIDP) (n = 25), acute motor axonal neuropathy (AMAN) (n = 10) and acute motor-sensory axonal neuropathy (AMSAN) (n = 1). Twenty (55.5%) patients were males and 16 (44.5%) patients were females. The mean age of the 36 patients was 68.1 ± 45.01 months (range, 6-180 months). Five (13.8%) patients were younger than 2 years. The most common initial symptoms were limb weakness, which was documented in 34 (94.4%) patients. In our study, 18 patients (51.4%) showed albuminocytological dissociation (raised protein concentration without pleocytosis) on cerebrospinal fluid (CSF) examination. Three patients (8.3%) required mechanical ventilation therapy during hospitalization. Unfortunately, three (8.3%) patients died; one patient had AIDP and two patients had axonal involvement (one case was AMAN and another case was AMSAN). When we compared the cases of residual sequel/dead and cases of complete recovery for neural involvement type including AIDP, AMAN and AMSAN, we did not find a statistically significant difference between the groups (P > 0.05). CONCLUSION: Our findings showed that cases of GBS was not uncommon in children younger than 2 years of age, and CSF protein level might be found high in the first week of the disease in about one half of the patients, with a higher rate of morbidity and mortality in patients with axonal involvement than in those with AIDP.

An analysis of children with brucellosis associated with pancytopenia.

Brucellosis produces a variety of nonspecific hematologic abnormalities. Hematologic complications of mild anemia and leukopenia have been frequently associated with acute brucellosis, but pancytopenia is less frequently seen. In this study, records of children with brucellosis aged under or equal to 16 years, admitted to Yuzuncu Yil University Hospital between 2004 and 2010, were analyzed retrospectively. Over this time period, 187 patients with brucellosis were diagnosed. Twenty-five (13.3%) of 187 patients had pancytopenia during admission to hospital. The diagnosis of brucellosis was confirmed by standard tube agglutination test in all patients; titers were 1:320 in 1 patient and 1:1280 in 24 patients. Blood culture was positive for Brucella melitensis in 3 patients (12%). Fever was the most common manifestation, followed by malaise, anorexia, sweating, and weight loss. Fever and splenomegaly were the common signs in most patients. In addition, arthritis was observed in 5 patients, and epistaxis, headache, and abdominal pain were observed in 3 patients. The common bone marrow aspiration findings consisted of increased megakaryocytes and hyperplasia of erythroid series, with a shift to the left of the granulocytic series. Histiocytic hyperplasia was observed in the bone marrow smear of 2 patients. Mild hemophagocytosis was observed in the bone marrow of 3 patients. All patients recovered completely, and their peripheral blood counts returned to normal by 2 to 6 weeks after antibiotic treatment of brucellosis. In conclusion, the authors would like to emphasize that brucellosis should be considered in the differential diagnosis of children with pancytopenia.

Report of a Non-Hodgkin lymphoma case presenting with pleural effusion.

Initial presentation of Non-Hodgkin Lymphoma (NHL) as primary pleural lymphoma is extremely rare. We report a case with NHL, who was initially presented with pleural effusion and pleural thickening. Our patients at first received intensive treatment of broad spectrum antibiotics for 10 days with no change in the clinical status, and then were diagnosed with T-lymphoblastic lymphoma with the examination of pleural fluid by using cytologic and flow cytometric methods, and treated with LMT89 group B treatment protocol. Our case points out the necessity for considering the NHL within the differential diagnosis of any pediatric patient presenting with sterile pleural effusion and pleural thickening who does not respond to antimicrobial therapy.

Metastasis of testicular yolk sac tumor to cauda equina.

Primary germ cell tumors may spread to the lung, liver, brain, and bone hematogenously. However, spinal metastasis is extremely rare. A case with yolk sac tumor (YST) and cauda equina metastasis was presented in a 2-year-old boy. Two months prior to admisssion, he underwent left radical orchiectomy for testicular YST. Computed tomography (CT) and magnetic resonance imaging (MRI) revealed spinal and cauda equina involvement. This is the first report of metastasis of testicular YST to cauda equina in a child.

EDTA-dependent pseudothrombocytopenia in a child.

Ethylenediaminetetraacetic acid (EDTA)-dependent pseudothrombocytopenia (PTCP) is the phenomenon of a spurious low platelet count due to antiplatelet antibodies that cause platelet clumping in blood anticoagulated with EDTA. The aggregation of platelets in EDTA-dependent PTCP is usually prevented by other anticoagulants, such as sodium citrate or heparin. EDTA-dependent PTCP has never been associated with hemorrhagic diathesis or platelet dysfunction. In this article, a 10-year-old boy with EDTA- and heparin-dependent PTCP is presented because of rare presentation. We report that EDTA and heparin can induce platelet clumping, and thus spuriously low platelet counts. However, aggregation of platelets was not detected in blood samples with sodium citrate, and platelet count was normal.

The clinical outcome of 260 pediatric ITP patients in one center.

In the current study, clinical and laboratory findings and treatment modalities of children with acute and chronic immune thrombocytopenic purpura (ITP) were evaluated retrospectively. Our purpose was to determine clinical outcome of children with ITP and their responses to different treatment regimes. Total of 260 children with ITP were enrolled in the study. The mean age of patients was 76.8 ± 48.1 months. The therapy responses of high-dose methylprednisolone (HDMP; n = 134), standard dose methylprednisolone (n = 32), and intravenous immunoglobulin (IVIG; n = 15) treatments were similar. Two (0.8%) of the 260 ITP patients had intracranial bleeding. None of the patients died due to hemorrhage. Of all the patients with ITP, 191 (73.5%) completely resolved within 6 months after initiation of the disease and therefore they were diagnosed as acute ITP; 69 patients (26.5%) had progressed into chronic ITP. The therapy responses of HDMP, standard dose methylprednisolone, and IVIG treatments are similar.

Disseminated intravascular coagulation in a case of brucellosis.

Brucellosis is a multisystem disease with a broad spectrum of clinical manifestations; hematological abnormalities ranging from fulminant as of disseminated intravascular coagulation (DIC) to anaemia, leucopoenia, thrombocytopenia, and clotting disorders. In this report, we present DIC in a case of brucellosis because of rare presentation. A 3-year-old boy was admitted with the complaints of continuous fever, vomiting, abdominal pain, and bruise on leg. He looked pale and his physical examination revealed purpuric skin lesions on both legs. A mild hepatosplenomegaly was noted on palpation. Laboratory tests showed hematocrit 21%, hemoglobin 7 g/dL, platelet count 20,000/mm(3), prothrombin time 19 seconds, activated partial thromboplastin time 48 seconds, plasma fibrinogen level 20 mg/dL, and D-dimer 8 µg/mL. Serum antibrucella titration agglutination test was found to be 1 of 1280 positive. Blood cultures performed on specimens obtained at the time of admission yielded Brucella melitensis. The clinical and laboratory findings were consistent with DIC.

Thrombotic thrombocytopenic purpura in a case of brucellosis.

Thrombotic thrombocytopenic purpura (TTP) is characterized by disseminated thrombotic occlusions located in the microcirculation and a syndrome of microangiopathic hemolytic anemia, thrombocytopenia, fever, and renal and neurologic abnormalities. Thrombotic thrombocytopenic purpura is encountered in a variety of clinical situations such as viral, bacterial, and mycobacterial infections, autoimmune disorders, drug reactions, connective tissue disease, and solid tumors. In this report, we present TTP in a case of brucellosis because of rare presentation. A 7-year-old girl was admitted with the complaints of headache, fever, hematuria, malaise, jaundice, epistaxis, and purpura. Her physical examination revealed conjunctival pallor, scleral icterus, petechial-purpuric skin lesions on both legs, and confusion. Laboratory tests showed hematocrit 14%; hemoglobin 4.8 g/dL; platelet count 6000/mm(3), and reticulocytosis 6%. Peripheral blood smear revealed fragmented red blood cells and a complete absence of platelets. The clinical and laboratory findings were consistent with TTP. Serum antibrucella titration agglutination test was found to be 1/1280 positive.

Acute ITP due to insect bite: report of 2 cases.

Immune thrombocytopenic purpura (ITP) of childhood is a common hematologic disorder. Immune thrombocytopenic purpura is characterized by increased destruction of antibody-coated platelets in the reticuloendothelial system. In the majority of children with acute ITP, thrombocytopenia occurs within 1 to 3 weeks after an infectious disease. Immune thrombocytopenic purpura may also occur after rubella, rubeola, chickenpox, or live virus vaccination. Here we report 2 cases with acute ITP that were developed after honeybee and insect bite.