Kabuki make-up syndrome: a case report

Kabuki make-up sendromu (KMS) mental retardasyon, gelisme geriligi ve multipl anomalilerle birlikte seyreden, nedeni bilinmeyen nadir görülen bir sendromdur. Olgular karakteristik bir yüz görünümüne (ektropion, kulak kepçelerinin genis ve düsük olması, genis alın, genis ve basık burun kökü) sahiptirler. Bu yazıda konusma bozuklugu, gözlerinde sık sık kızarıklık ve yasarma ile birlikte sık tekrarlayan kulak akıntısı nedeniyle basvuran ve karakteristik özellikleri ile KMS düsünülen 5 yasındaki bir kız olgu nadir görülmesi nedeniyle sunulmak istenmistir.Kabuki make-up syndrome (KMS) is a rare syndrome characterized by mental retardation, growth retardation and multiple abnormalities. The etiology is obscure. Patients present with typical facies characterized by ectropion of eyelids, a wide forehead, arched eyebrows and a depressed and broad nasal tip. In this paper we report a 5-year-old girl who presented with speech abnormalities, recurrent red eyes, epiphora and recurrent otitis media

The 6th of february earthquake and the Turkish society of pediatric nephrology-organizational aspects of pediatric kidney care

The 6 February 2023 earthquake that struck southern and central Turkey and northern and western Syria had unique drawbacks, such as the occurrence of two strong, destructive earthquakes nine hours apart in multiple and densely populated geographical areas, exposure to unforgiving winter conditions, and increased anxiety and fear due to multiple aftershocks [1, 2]. As of 26 March 2023, >50 000 people have been killed and many more have been injured in Turkey [3]. One recent editorial and a letter emphasized the vital importance of increased awareness of disaster preparedness and rapid action on organizational issues [4, 5]. Nongovernmental organizations including academic medical societies should take responsibility during disasters [6] and work together with other stakeholders. Since an earthquake should be considered a “kidney disaster” because of crush injuries and resultant acute kidney injury [7], the Turkish Society of Pediatric Nephrology (TSPN) took primary responsibility during the immediate and early phases of earthquake

COVID-19 in pediatric patients undergoing chronic dialysis and kidney transplantation

The study aims to present the incidence of COVID-19 in pediatric patients undergoing renal replacement therapy (RRT) and to compare the severity and outcomes of the disease between the dialysis and kidney transplant (KTx) groups. This multicenter observational study was conducted between 1 April and 31 December 2020 in Istanbul. Members of the Istanbul branch of the Turkish Pediatric Nephrology Association were asked to report all confirmed cases of COVID-19 who were on RRT, as well as the number of prevalent RRT patients under the age of 20. A total of 46 confirmed cases of COVID-19 were reported from 12 centers, of which 17 were dialysis patients, and 29 were KTx recipients. Thus, the incidence rate of COVID-19 was 9.3% among dialysis patients and 9.2% among KTx recipients over a 9-month period in Istanbul. Twelve KTx recipients and three dialysis patients were asymptomatic (p = 0.12). Most of the symptomatic patients in both the dialysis and KTx groups had a mild respiratory illness. Only two patients, one in each group, experienced a severe disease course, and only one hemodialysis patient had a critical illness that required mechanical ventilation. In the entire cohort, one hemodialysis patient with multiple comorbidities died. Conclusion: While most cases are asymptomatic or have a mild disease course, pediatric patients undergoing dialysis and a kidney transplant are at increased risk for COVID-19. What is Known: In adult population, both dialysis patients and kidney transplant recipients are at increased risk for severe illness of COVID-19 and have higher mortality rate. Children with kidney transplantation are not at increased risk for COVID-19 and most have mild disease course. Data on children on dialysis are scarce. What is New: Pediatric patients undergoing dialysis and kidney transplantation have an increased risk for COVID-19. Most patients undergoing renal replacement therapy either on dialysis or transplanted develop asymptomatic or mild COVID-19 disease with a favorable outcome

COVID-19 in pediatric nephrology centers in Turkey

Background/aim: There is limited data on COVID-19 disease in children with kidney disease. We aimed to investigate the characteristics and prognosis of COVID-19 in pediatric nephrology patients in Turkey. Materials and methods: This was a national, multicenter, retrospective cohort study based on an online survey evaluating the data between 11th March 2020 and 11th March 2021 as an initial step of a detailed pediatric nephrology COVID-19 registry. Results: Two hundred and three patients (89 girls and 114 boys) were diagnosed with COVID-19. One-third of these patients (36.9%) were between 10–15 years old. Half of the patients were on kidney replacement therapy: kidney transplant (KTx) recipients (n = 56, 27.5%), patients receiving chronic hemodialysis (n = 33, 16.3%) and those on peritoneal dialysis (PD) (n = 18, 8.9%). Fifty-four (26.6%) children were asymptomatic. Eighty-two (40.3%) patients were hospitalized and 23 (28%) needed intensive care unit admission. Fifty-five percent of the patients were not treated, while the remaining was given favipiravir (20.7%), steroid (16.3%), and hydroxychloroquine (11.3%). Acute kidney injury developed in 19.5% of hospitalized patients. Five (2.4%) had MIS-C. Eighty-three percent of the patients were discharged without any apparent sequelae, while 7 (3.4%) died. One hundred and eight health care staff were infected during the study period. Conclusion: COVID-19 was most commonly seen in patients who underwent KTx and received HD. The combined immunosuppressive therapy and frequent exposure to the hospital setting may increase these patients’ susceptibility. Staff infections before vaccination era were alarming, various precautions should be taken for infection control, particularly optimal vaccination coverage

Tübüler proteinüri ve enzimürinin klinik önemi

Urinary enzymes and low molecular weight proteins (microprotein) have been used as early markers of nephron toxicity. In this paper, the clinical usefulness of measurement of urinary excretion of microproteins and tubular enzymes were reviewed. Studies on patients with acute tubular necrosis showed that the excretion of microproteins and tubular enzymes has higher value than classic renal function tests for the early detection of the disease as well as for the prediction of the development of overt acute renal failure. Tubular dysfunction may be detected by measurement of the excretion of tubular enzymes and microproteins not only in workers, chronically exposed to heavy metals, but also in population, exposed to low environmental level below the limits set by the World Health Organization. In chronic glomerulonephritides the excretion of microproteins and tubular enzymes are significantly associated with the extent of tubulo-interstitial damage and predicts outcome better than proteinuria per day. In conclusion, the measurement of urinary excretion of tubular enzymes and microproteins may be clinically useful in several different kidney diseases both for diagnosis and prediction of outcome.Üriner enzimler ve düşük molekül ağırlıklı proteinler (mikroprotein) nefron toksisitesinin erken bir belirleyicisi olarak kullanılmak-tadır. Bu derlemenin amacı idrarda atılan mikroproteinlerin ve tübüler enzimlerin klinik faydasını değerlendirmektir. Akut tübüler nekrozlu (ATN) hastalarda yapılan çalışmalarda enzimüri ve mikroproteinürinin klasik böbrek fonksiyon testlerine göre, ATN’yi ve akut böbrek yetmezliğini daha erken evrede saptamada yüksek bir değere sahip olduğu gösterilmiştir. Tübüler proteinüri ve enzimürinin ölçülmesi ile yalnızca ağır metallerle sürekli olarak karşılaşan işçilerde değil aynı zamanda Dünya Sağlık Örgütünün belirlediği sınırların altındaki düşük çevresel düzeylerde yaşayan popülasyonda da tübüler disfonksiyon saptanabilmektedir. Kronik glomerülonefritte mikroprotein ve tübüler enzim atılımı tübülointertisyel hasarın ağırlığı ile anlamlı olarak ilişkili olup, klinik gidişi günlük protein atılımına kıyasla daha iyi tahmin eder. Sonuç olarak, klinikte tübüler enzimlerin ve mikroproteinlerin idrardaki atılımlarının ölçülmesi birçok farklı böbrek hastalığında hem tanı hem de klinik gidiş açısından faydalı olabilmektedir

A child with a severe headache: Questions

A 12-year-old girl presented with complaint of severe headache lasting 10 days, nausea and vomiting for 1 day. The headache was localized in the right fronto-occipital region with spread to the neck and shoulders. In her medical history, tympanostomy tubes were inserted in her ears due to frequent otitis media with effusion before 2 years. She had recurrent reactive airway, asthma attacks, and allergic rhinitis. Before the definitive diagnosis could be established, she had received systemic antihistamine, nasal steroid, leukotriene antagonist, inhaler steroid, and salbutamol. She was treated with sefaclor per orally due to acute sinusitis for 5 days. The patient was admitted to our hospital with symptoms of severe headache. Physical examination showed that she was alert with an axillary temperature of 36.3 °C, weight of 60 (95th percentile) kg, height of 155 (65th percentile) cm, blood pressure of 150/100 mmHg (> 95th/> 95th percentile), and heart rate of 98 beats/min

Conservative management of non-refluxing non-obstructive megaureter: A longitudinal observational study

Introduction: There is a lack of prospective studies that include a selected population of patients with non-refluxing non-obstructive megaureter (MU). We aimed to examine the 2-year follow-up results of non-refluxive non-obstructive MU patients who dont require surgery.. Material and methods: 17[(22 kidney units (KU))MU cases who were followed up between 2018 and 2021 at Medipol University, Faculty of Medicine, Division of Pediatric Nephrology were included in the study. Group 1 was defined as improved or regressed KU according to hydronephrosis degrees and diameters. Group 2 was defined as worsened or remained stable KU. Cases were analyzed retrospectively ultrasonographic (US) findings, in terms of urinary tract infection (UTI) frequency, stone and growth (height and weight SDS scores) parameters. Results: 13 (76.4%) of the 17 cases were diagnosed antenatally. 13 of cases were boys. 3 of the 17 cases were found on the right side, 5 were bilateral and 9 were found on the left side. We determined no statistically significant difference in terms of hydronephrosis severity, UTI frequency or initial and final growth scores between Group 1 and Group 2 (Table 1). Conclusions: Although US findings cause concern for the doctor and parents in MU cases without reflux and obstruction, we could be interpreted to these cases having a low risk of causing problems in terms of UTI, parenchymal damage and growth

Is it possible to perform less vcug?

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