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Objective: We aimed to evaluate the clinical significance of the “unclassified” blood pressure phenotypes on left ventricular hypertrophy in children. Materials and Methods: All children evaluated with ambulatory blood pressure monitoring in the pediatric nephrology department between October 2018 and January 2021 were included in the study. Prehypertension, normotensive, white coat hypertension, masked hypertension, ambulatory hypertension groups and 2 other groups including increased blood pressure load, normal ambulatory blood pressure measurements, but normal (unclassified group 1) or high (unclassified group 2) office blood pressure measurements were defined according to the American Heart Association 2014 statement. Left ventricular mass index, left ventricular mass index/95 percentile values, and left ventricular hypertrophy ratios were compared between the groups separately to establish the influence of the unclassified cases. Results: A total of 497 children were included. There were 52 cases in normotensive, 47 cases in unclassified group 1, 50 cases in masked hypertension, 79 cases in white coat hypertension, 104 cases in unclassified group 2, and 165 cases in the ambulatory hypertension group. Left ventricular mass index/95 percentile and left ventricular hypertrophy in masked hypertension were significantly higher than normotensive but similar between normotensive and unclassified group 1 groups. Left ventricular hypertrophy was significantly higher in the ambulatory hypertension group compared to white coat hypertension, and similar between white coat hypertension and unclassified group 2 groups. Conclusion: Independent of age, we have found that interpretation of blood pressure load not only has a limited predictable effect on left ventricular hypertrophy but also causes a large group of patients to be unclassified. [ABSTRACT FROM AUTHOR]

Objective: We aimed to evaluate the approaches of pediatric nephrologists in our country to the management of childhood hypertension. Methods: The pediatric nephrologists in our country were invited to fill out an online questionnaire including 24 questions. The answers were compared between those working in the field for ≤10 years (Group 1, n =74) and >10 years (Group 2, n = 62). Results: Of 136 participants (M/F = 101/35), 52% were following a single guideline [31% Fourth Report of 2004, 17% European Society of Hypertension in 2016, and 52% American Academy of Pediatrics in 2017], which is more common in Group 1 (P = .035). The most commonly used guideline was American Academy of Pediatrics of 2017 and Group 2 used Fourth Report of 2004 more commonly (P = .042). The most common choice to diagnose hypertension was office +home +ambulatory blood pressure monitoring (59%). The frequency of screening for end-organ damage at first evaluation was 96%. The time to wait for the effect of lifestyle modifications was 3 months in 52%. The first choice medication was angiotensin-converting enzyme inhibitors (49%) or calcium-channel blockers (48%) in non-obese and angiotensin-converting enzyme inhibitors (74%) in obese children. Calcium-channel blockers were more commonly prescribed as the first choice in non-obese children in Group 1 (P = .035). The most accessible emergency drug was esmolol. Conclusion: Despite following recent guidelines, the time spent in the proficiency would change the practices. [ABSTRACT FROM AUTHOR]

Aim: This study aimed to present the demographic, clinical, and laboratory features of children clinically diagnosed with familial Mediterranean fever (FMF) and to predict more severe mutations by evaluating those findings. Methods: We enrolled cases diagnosed with FMF with a defined variation in at least one allele. The medical charts of the patients were reviewed retrospectively. The patients were grouped as homozygous, compound heterozygous, and simple heterozygous cases, with and without M694V mutation. We compared the data between the subgroups using logistic regression analysis and determined the risk factors for being homozygous or compound heterozygous for M694V. Results: A total of 263 (M/F =109/154) cases were included. The mean age at the onset of symptoms, follow-up duration, and time to diagnosis were 6.75 ± 3.9 (0.25-17) years, 51.78 ± 39.31 (6-166) months, and 9.23 ± 14.44 (1-132) months, respectively. The rates of parental consanguinity, positive family history for FMF, and FMF in a first-degree relative were 15%, 42%, and 31.4% respectively. The most common symptom was abdominal pain (85%). There was no difference between the growth parameters of the cases during the initial and final control periods. The most frequent alleles were M694V, E148Q, and V726A. The most common accompanying disease was IgA vasculitis (20%). Almost 90% of the cases fulfilled all the defined criteria. The rate of patients having a first-degree relative with FMF was higher, Hb values were lower, and the erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP) values were higher during the attack period; the ESR and CRP values were higher in the attack-free period; and Pras disease severity scores were higher in homozygous or compound heterozygous cases carrying M694V. The presence of FMF in a first-degree relative increases the probability of being homozygous and compound heterozygous for M694V by a factor of 2.39; and each 1 unit increase in the Pras score increases this probability by a factor of 1.43. The threshold Pras score for this possibility is 5.5 (AUC = 0.651; 95% CI, 0.545-0.757; P = .006; sensitivity, 65%; specificity, 55%). Conclusion: M694V was the most common and severe mutation in our cohort. The presence of a first-degree relative with FMF and Pras scores >5.5 may predict a homozygous or compound heterozygous mutation for M694V. [ABSTRACT FROM AUTHOR]

In the article, the authors present a case of a 14-year-old male who was presented to a clinic due to severe pain in his right loin with acute fatigue, tachycardia, a large subcapsular haematoma in his right kidney, and low haemoglobin levels to discuss recurrent perirenal hematomas and brachial plexopathy in patients with familial Mediterranean fever-linked polyarteritis nodosa (PAN). Also cited are the recommended treatments like biological agents such as rituximab.

Polyarteritis nodosa (PAN) is a necrotizing systemic vasculitis involving the wall of small and medium sized arteries. The histological aspect is defined by the presence of fibrinoid necrosis and an infiltrate rich in neutrophil polynuclears in the artery wall and rare granulomas. CECR1 (Cat Eye Syndrome Chromosome Region 1) gene mutation causing adenosine deaminase 2 (ADA2) deficiency is also associated with systemic inflammation, vasculopathy, and frequently PAN. Strokes, neurological involvement, and gastrointestinal involvement have poor prognosis in the cases with ADA2 deficiency particularly in early stage. In this article, we report a 17-year-old male patient diagnosed with PAN who had severe gastrointestinal system involvement that was resistant to intensive and conventional immunosuppressive treatment and showed a fatal course despite the emergency surgical intervention. After the patient was exitus, he was detected to have a heterozygous mutation (V276A) of familial Mediterranean fever (FMF) and also a homozygous ADA2 mutation. The aim of this article is to highlight that ADA2 deficiency may be present in treatment-resistant PAN cases who apply due to severe systemic involvement. In this case, accompanying FMF mutation was also observed. [ABSTRACT FROM AUTHOR]

Objectives: This study aims to evaluate the frequency of skin, gastrointestinal, joint, and renal involvement in children with Henoch-Schonlein purpura (HSP) and investigate the risk factors for organ/system involvement. Patients and methods: The data of 186 patients (97 boys, 89 girls; mean age 7.4±2.8 years; range 1.5 to 16.5 years) who were followed-up with the diagnosis of HSP in our clinic between October 2011 and December 2013 were evaluated retrospectively. Results: Logistic regression analysis revealed that the risk of gastrointestinal system (GIS) involvement was significantly higher in patients with skin lesions in the upper extremities (p=0.002, odds ratio [OR]=3.2). The risk of joint involvement was significantly higher in girls (p=0.024, OR=2.18), in patients with soft tissue swelling (p=0.005, OR=2.63), and with low mean platelet volume (MPV) levels (p=0.008, OR=4.07). The risk of renal involvement was significantly higher in girls (p=0.047, OR=2.7), in patients >10 years (p=0.001, OR=1.4), and in patients with elevated C-reactive protein (CRP) levels (p=0.007, OR=6.57). Conclusion: Having skin lesions in the upper extremities is a risk factor for GIS involvement. Female sex, soft tissue swelling, and low MPV levels are risk factors for joint involvement. Female sex, >10 years of age, and high CRP levels are risk factors for renal involvement. Renal involvement in HSP is independent of GIS or joint involvement and very close follow-up is required in the acute period particularly in girls >10 years w ith high CRP levels. [ABSTRACT FROM AUTHOR]

Oculocerebrorenal syndrome, also known as Lowe syndrome, is an X-linked recessive disorder that predominantly affects males and is characterized by growth and mental retardation, congenital cataract and renal Fanconi syndrome. OCRL1 is the gene responsible for Lowe syndrome and encodes an inositol polyphosphate-5-phosphatase. We present an 11-year-old boy with Lowe syndrome, who had a de novo frameshift mutation in exon 22 that resulted in amino acid substitution and premature codon termination at position 788. This is a new mutation involving the OCRL1 gene in a patient with Lowe syndrome of Turkish origin and expands the mutation spectrum in this disorder. [ABSTRACT FROM AUTHOR]

Secondary pseudohypoaldosteronism type 1 develops due to transient aldosterone resistance in renal tubules and is characterized by renal sodium loss, hyponatremia, hyperkalemia and high plasma aldosterone levels. Although many reasons are described, urinary tract infections and/or urinary tract anomalies are the most common causes. Although the cause of the tubular resistance is not known exactly, renal scar development due to obstruction and reduced sensitivity of mineralocorticoid receptors due to cytokines such as transforming growth factor (TGF)-β are the possible mechanisms. It is seen especially within the first three months of life and the frequency decreases with age. The treatment is usually elimination of the underlying cause. In this article, we present four patients with several urinary tract anomalies and concomitant urinary tract infection who developed transient secondary pseudohypoaldosteronism. [ABSTRACT FROM AUTHOR]

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 11 th March 2020 and 11 th 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., (© TÜBİTAK.)

Objectives: In this study, our aim was to evaluate the systolic cardiac parameters and related risk factors in children within 6 months after kidney transplant., Materials and Methods: We retrospectively evaluated 24 children who received kidney transplants. Clinical and laboratory parameters before and after transplant were recorded. Results were evaluated statistically, with a P value less than .05 considered significant., Results: Before transplant, systolic cardiac functions were within normal limits. After transplant, ejection fraction (63.35% ± 5.38% vs 66.95% ± 4.62%; P = .01) was significantly increased and left ventricular mass index (32.63 ± 17.21 g/m2.7 vs 31.29 ± 15.65 g/m2.7; P = .78) was not significantly decreased, whereas fractional shortening (52.16% ± 15.32% vs 59.8% ± 12.94%; P = .54) did not change. Systolic blood pressure, systolic blood pressure index, diastolic blood pressure, and diastolic blood pressure index values were not statistically different before and after transplant (P > .05). The number of antihypertensive agents was significantly decreased (P = .001). Before and after transplant, cardiac geometry was normal in 15 patients (62.5%) and 17 patients (70.8%)., Conclusions: Our patients, who had stable systolic cardiac function before transplant, showed further improvements in systolic cardiac function even within 6 months after transplant. Therefore, strictly monitored and controlled blood pressure, volume, anemia, and nutrition in children before transplant may play important roles in achieving better cardiac systolic function after kidney transplant.

Secondary pseudohypoaldosteronism type 1 develops due to transient aldosterone resistance in renal tubules and is characterized by renal sodium loss, hyponatremia, hyperkalemia and high plasma aldosterone levels. Although many reasons are described, urinary tract infections and/or urinary tract anomalies are the most common causes. Although the cause of the tubular resistance is not known exactly, renal scar development due to obstruction and reduced sensitivity of mineralocorticoid receptors due to cytokines such as transforming growth factor (TGF)-beta are the possible mechanisms. It is seen especially within the first three months of life and the frequency decreases with age. The treatment is usually elimination of the underlying cause. In this article, we present four patients with several urinary tract anomalies and concomitant urinary tract infection who developed transient secondary pseudohypoaldosteronism.