Pediatric kidney care experience after the 2023 Turkey/Syria earthquake.

BACKGROUND/AIMS: Two earthquakes on February 6th, 2023 destroyed ten cities in Türkiye. We report our experience with pediatric victims during these catastrophes, with a focus on crush syndrome related-acute kidney injury (Crush-AKI) and death. METHOD: A web-based software was prepared. Patient demographics, time under rubble (TUR), admission laboratory data, dialysis, and kidney and overall outcomes were asked. RESULTS: 903 injured children (median age: 11.62 years) were evaluated. Mean TUR was 13 h (Interquartile range-IQR: 32.5), max 240 h). 31 of 32 patients with a TUR of >120 h survived. The patient who rescued after ten days survived.Two-thirds of the patients were given 50 mEq/L sodium-bicarbonate in 0.45% sodium-chloride solution on admission day. 58% of patients were given intravenous fluid (IVF) at a volume of 2000-3000 mL/m2 body surface area (BSA), 40% of 3000-4000 mL/m2 BSA, and only 2% of >4000 mL/m2 BSA. 425 patients had surgeries, 48 suffered from major bleeding. Amputations were recorded in 96 patients. Eighty-two and 66 patients required ventilator and inotropic support, respectively.Crush-AKI developed in 314 patients (36% of all patients). 189 patients were dialyzed. Age > 15 years, creatine phosphokinase (CK)≥20 950 U/L, TUR≥10 h, and the first-day IVF volume < 3000-4000 mL/m2 BSA were associated with Crush-AKI development. 22 deaths were recorded, 20 of 22 occurred in patients with Crush-AKI and within the first 4 days of admission. All patients admitted after 7 days survived. CONCLUSIONS: This is the most extensive pediatric kidney disaster data after an earthquake. Serum CK level was significantly associated with Crush-AKI at the levels of >20 950 U/L, but not with death. Adolescent age and initial IVF of less than 3000-4000 mL/m2 BSA were also asscoiated with Crush-AKI. Given that mildly injured victims can survive longer periods in the disaster field, we suggest uninterrupted rescue activity for at least 10 days.

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.

Nutcracker syndrome complicating with renal abscess.

The nutcracker syndrome refers to compression of left renal vein between the superior mesenteric artery and aorta. Renal abscess consists of purulent and necrotic material localised to the renal parenchyma. These two entities are extremely rare and their coincidence has not previously been described in literature. Here, we report a case of a 10-year-old girl who developed left renal abscess probably due to nutcracker syndrome.

The utility of bioimpedance analysis for monitoring the children with nutcracker syndrome.

UNLABELLED: We aimed to evaluate anthropometric and bioimpedance analysis (BIA) indices of children with nutcracker syndrome (NCS). Eighteen patients and 20 age-gender matched controls were enrolled. Weight, height, body mass index (BMI), mid-arm circumference (MAC), waist circumference (WC), waist/hip ratio measurements, and BIA results were assessed. Laboratory parameters and Doppler sonographic findings were recorded. The weight, BMI, MAC, WC, body fat z scores, and waist/hip ratio were significantly lower in patients than in controls (p < 0.05). Serum creatinine (Scr), albumin, HDL cholesterol, and urine protein (Up) were significantly increased in NCS patients compared to controls (p < 0.05). On multivariate analysis, body fat z score was independently related to Up and the degree of superior mesenteric artery (SMA) angle (beta = -0.965, p = 0.018 and beta = 0.841, p = 0.04, respectively). CONCLUSION: NCS might be considered in slim proteinuric patients with unproven etiology. Serial anthropometric measurements and BIA analysis would estimate the severity of entrapment in LRV. Long-term follow-up of Scr might be required in NCS. WHAT IS KNOWN: • Nutcracker syndrome (NCS) is very rare and characterized by the compression of LRV between aorta and SMA. What is new: • Patients with NCS have a slimmer body feature with lower anthropometric and BIA indices. • Fat percentage indicates the degree of LRV entrapment and amount of proteinuria in NCS.

Medullary nephrocalcinosis in Schimke immuno-osseous dysplasia.

Schimke immuno-osseous dysplasia (SIOD) is a rare hereditary disease characterized by skeletal dysplasia, immune deficiency and progressive renal disease. Kidney involvement mainly determines the prognosis. The most common renal pathology is focal segmental glomerulosclerosis (FSGS). Medullary nephrocalcinosis refers to the diffuse deposition of calcium salts in renal medulla and has not previously been identified in SIOD. Here we report the first case of a pediatric patient having typical features of SIOD with medullary nephrocalcinosis.

Membranous nephropathy presenting with nephrotic syndrome in a child with thalassemia major.

Few data on the renal effects of thalassemia syndrome are available in the literature. Recent clinical studies identified proximal tubular damage and glomerular filtration abnormalities in thalassemia. Iron-chelating agents might be nephrotoxic as well, but proven glomerular injury, either due to anemia or chelating therapy, has not previously been demonstrated in thalassemia patients. Here, we report the first thalassemia patient presenting with nephrotic syndrome to be diagnosed with membranous nephropathy in the literature.

Apelin and nutritional status in children on dialysis.

BACKGROUND: We aimed to evaluate whether serum apelin could reflect the nutritional status of children on dialysis. METHODS: Twelve patients on peritoneal dialysis (PD) and 20 patients on hemodialysis (HD) were enrolled. Patients received individualized diet for six months. Anthropometric and laboratory indices were measured at onset and the end of the study. RESULTS: The anthropometric indices were all significantly lower in patients than in controls whereas similar in PD and HD patients. The protein catabolic rate (nPCR), height, mid-arm circumference (MAC), triceps skinfold thickness (TSF), arm muscle area (AMA) and arm fat area (AFA) z scores were significantly increased in dialysis patients after nutritional intervention. Weight z scores statistically increased in HD group whereas did not statistically change in PD group. Serum albumin levels were significantly improved in PD and HD patients. Apelin levels were similar in PD, HD and control groups. Post nutritional apelin values did not differ in each dialysis groups. On multivariate analysis, apelin was independently associated with age, weight, ESR and TG. CONCLUSIONS: Apelin seems to be not a useful indicator for monitoring the nutritional status in children on dialysis. However, the close link of apelin with inflammatory and lipid parameters suggested that apelin might be a novel target for slowing the atherogenic process in pediatric dialysis patients.

Outcome of children with multicystic dysplastic kidney: Does involved side matter?

BACKGROUND: Multicystic dysplastic kidney (MCDK) is a common anomaly detected on antenatal ultrasound. We aimed to assess the profile of children with MCDK and to investigate whether the involved side has any effect on outcome. METHODS: Thirty-nine patients with MCDK and 20 controls were enrolled. Patients who estimated glomerular filtration rate (eGFR) values over 90 mL/min/1.73 m2 were compared with controls. Comparison was made between the involved sides. RESULTS: MKDB was right-sided in 20 (51.3%) and left-sided in 19 (48.7%) patients. 33.3% had additional urinary tract abnormality, 10.2% had systemic abnormality. 82% showed contralateral kidney enlargement. 48.7% involuted, 17.9% underwent nephrectomy. 35.8% suffered from urinary tract infection (UTI). 5.1% had renal scarring (RS). 30% developed microalbuminuria. 12.8% complicated with hypertension. 17.9% progressed to chronic kidney disease (CKD). Hypertension was independent risk factor for developing CKD. Blood pressure, cystatin C and urine microalbumin/creatinine levels were increased, and eGFR values were decreased in patients compared to controls. No significant difference was found between the two sides for rates of involution, UTI, RS, nephrectomy, and additional abnormality. Cystatin C levels were higher on the right than left sides (p = .033). CONCLUSION: Children with MCDK predispose to renal deterioration even at normal eGFR values. Although cystatin C levels tended to increase in right-sided patients, the involved side seemed to have no significant effect on renal outcome. Hypertension was main determinant for progression to CKD in MCDK.

Magnetic resonance imaging based kidney volume assessment for risk stratification in pediatric autosomal dominant polycystic kidney disease.

Introduction: In the pediatric context, most children with autosomal dominant polycystic kidney disease (ADPKD) maintain a normal glomerular filtration rate (GFR) despite underlying structural kidney damage, highlighting the critical need for early intervention and predictive markers. Due to the inverse relationship between kidney volume and kidney function, risk assessments have been presented on the basis of kidney volume. The aim of this study was to use magnetic resonance imaging (MRI)-based kidney volume assessment for risk stratification in pediatric ADPKD and to investigate clinical and genetic differences among risk groups. Methods: This multicenter, cross-sectional, and case-control study included 75 genetically confirmed pediatric ADPKD patients (5-18 years) and 27 controls. Kidney function was assessed by eGFR calculated from serum creatinine and cystatin C using the CKiD-U25 equation. Blood pressure was assessed by both office and 24-hour ambulatory measurements. Kidney volume was calculated from MRI using the stereological method. Total kidney volume was adjusted for the height (htTKV). Patients were stratified from A to E classes according to the Leuven Imaging Classification (LIC) using MRI-derived htTKV. Results: Median (Q1-Q3) age of the patients was 6.0 (2.0-10.0) years, 56% were male. There were no differences in sex, age, height-SDS, or GFR between the patient and control groups. Of the patients, 89% had PKD1 and 11% had PKD2 mutations. Non-missense mutations were 73% in PKD1 and 75% in PKD2. Twenty patients (27%) had hypertension based on ABPM. Median htTKV of the patients was significantly higher than controls (141 vs. 117 ml/m, p = 0.0003). LIC stratification revealed Classes A (38.7%), B (28%), C (24%), and D + E (9.3%). All children in class D + E and 94% in class C had PKD1 variants. Class D + E patients had significantly higher blood pressure values and hypertension compared to other classes (p > 0.05 for all). Discussion: This study distinguishes itself by using MRI-based measurements of kidney volume to stratify pediatric ADPKD patients into specific risk groups. It is important to note that PKD1 mutation and elevated blood pressure were higher in the high-risk groups stratified by age and kidney volume. Our results need to be confirmed in further studies.

The forgotten ureteral stent in children: from diagnosis to treatment.

PURPOSE: We conducted a multicenter pediatric study of ureteral stents unintentionally left in situ. MATERIALS AND METHODS: A total of 22 patients with encrusted Double-J® ureteral stents unintentionally left in situ were treated at 4 centers between January 2007 and March 2012. Stone burdens were estimated using plain radiography and computerized tomography. Treatment decision was made based on clinical and radiological findings or stone burden. RESULTS: Nine girls and 13 boys with a mean age of 9.5 years (range 2 to 16) were analyzed. Mean indwelling time of ureteral stent was 21.7 months (range 6 to 60). Stents were inserted for the indication of urolithiasis (17 patients) and reconstructive urological intervention (5). In 2 patients stents had been placed bilaterally. Mean stent stone burden was 184 mm(2) on plain radiography and 247 mm(2) on computerized tomography, a difference that was statistically significant (p = 0.002). Shock wave lithotripsy was done in 6 cases. Endoscopic procedures were performed in all patients, including ureteroscopy in 8, simple stent removal in 7, endoscopic cystolithotripsy in 6, percutaneous nephrolithotomy in 5, retrograde intrarenal surgery in 3 and percutaneous cystolithotripsy in 2. Surgical removal of each stent required a mean of 1.5 interventions and a mean hospital stay of 4.4 days. CONCLUSIONS: At experienced centers combined endourological techniques can achieve successful and safe management of forgotten stents even in the pediatric age group. Thus, routine preprocedural tomography is a must in children with forgotten ureteral stents.

Interleukin-18, CRP and procalcitonin levels in vesicoureteral reflux and reflux nephropathy.

BACKGROUND: Some patients with vesicoureteral reflux (VUR) develop reflux nephropathy (RN) and a number of them progress to chronic kidney disease (CKD). However, it is unclear to predict which patient will develop RN and/or CKD. The aim of this study is to evaluate the role of Interleukin-18 (IL-18), C-reactive protein (CRP) and procalcitonin (PCT) as an indicator of RN in VUR. METHODS: Ninety-three children aged 3.5-16 years with primary VUR were enrolled. Patients were divided into two groups according to the presence of renal scarring (RS). CRP, PCT, blood urea nitrogen (BUN), serum creatinine (Scr), urinary protein (Up), creatinine (Ucr) and microalbumin (Umalb), serum and urine IL-18 levels were determined during urinary tract infection (UTI) free episode. RESULTS: BUN, Scr, Up/Ucr and Umalb/Ucr concentrations were higher whereas calculated creatinine clearance (Ccr) values were lower in RS (+) group compared to RS (-) group. CRP, PCT, serum and urine IL-18 levels and mean urine IL-18/Cr concentrations were similar in both groups. Serum and urine IL-18 levels did not differ according to the grade of VUR. No significant correlation was found between CRP, PCT and IL-18. CONCLUSIONS: Proteinuria and microalbuminuria are valuable hallmarks of RN. CRP and PCT seem not to be reliable indicators of RN in VUR patients. Moreover, serum and urine IL-18 might not predict RN.

Comparison of effectiveness of Nintendo Wii-based exergaming and home-based fun video exercises in pediatric patients with chronic kidney disease.

Functional capacity and quality of life (QoL) are reduced in children and adults with chronic kidney disease (CKD). Aerobic, strengthening exercises, and exergames are reported as effective in the treatment of symptoms associated with CKD. Unlike adult patients, there are insufficient studies investigating the effects of exercise on disease-related symptoms in pediatric CKD. This study aimed to compare the effects of Nintendo Wii-based exergaming and home-based fun video exercises on functional capacity, muscle strength, physical activity (PA), depression, fatigue, and QoL in pediatric patients with CKD. Twenty-three pediatric patients with CKD were included in the study and randomized to group I (Nintendo Wii Fit) and group II (home-based fun video exercises). Patients in both groups underwent exercise programs twice per week for 6 weeks. Functional capacity, muscle strength, PA, QoL, fatigue, and depression of the patients were evaluated before and after the treatments. Sixteen patients completed the study. After treatment, significant differences were observed in both groups on 6MWT, muscle strength, average daily steps, PedsQoL Child Self-Report PHSS, and the Visual Fatigue Scale. Left knee flexor muscle strength and average step counts were found to be superior in group I. Both exergaming and home-based fun video exercises provide positive effects on functional capacity, muscle strength, fatigue, PA, depression, and QoL in pediatric patients with CKD. We think that these exercise methods can help to protect physical and mental health of patients and should be included in treatment from the early stages of the disease.

COVID-19 complicated with acute renal failure due to mycotic bezoars in two children. / COVID-19 complicado con fallo renal agudo debido a bezoar micótico en dos niños.

OBJECTIVES: Patients with viral infection areat risk for secondary infections and/or co-infections. Ourstudy aims to describe coronavirus-disease-19 (COVID-19) associated with acute renal failure (ARF) secondary to fungalbezoar in urinary tract in two patients. METHODS: A chart review of two patients with COVID-19 associated pneumonia admitted to an education and training hospital Istanbul, Turkey were evaluated. RESULTS: On the first day of hospitalization, ARF was developed in both of them. Ultrasonography and computedtomography scan revealed image of urolithiasis and hydronephrosis. However, in their cystoscopies, there were densedebris materials leading to obstruction in calyceal system. Antifungal medication was added to the COVID-19 treatment due to the macroscopic aspect during the cystoscopy. Renal functions of the children were improved following the treatment. CONCLUSIONS: Clinicians caring for patients with COVID-19 should perform a comprehensive analysis to detect co-infections.

OBJETIVOS: Los pacientes con infecciones virales están en riesgo de infecciones secundarias y co-infecciones. Nuestro estudio tiene como objetivos describir COVID-19 asociado a fallo renal agudo secundario a bezoarmicótico en el tracto urinario en dos pacientes.MÉTODOS: Se evaluó la historia clínica de dos pacientes con COVID-19 asociado a neumonía e ingresados en un hospital académico en Istambul, Turquía. RESULTADOS: En el primer día de hospitalización, el fallo renal agudo se desarrolló en ambos. La ecografía renal y tomografía computerizada mostraron imagen de urolitiasise hidronefrosis, aunque, en la cistoscopia había un material denso que obstruía el sistema caliceal. La medicación antifúngica se añadió al tratamiento de COVID-19 debido al aspecto macroscópico durante la cistoscopia. La función renal de los niños mejoró con el tratamiento. CONCLUSIONES: Los médicos que tratan pacientes con COVID-19 deberían hacer un análisis completo para detectar co-infecciones.

The relevance of practical laboratory markers in predicting gastrointestinal and renal involvement in children with Henoch-Schönlein Purpura.

OBJECTIVES: Henoch-Schönlein Purpura (HSP) is the most common self-limiting vasculitis of childhood. Both serious gastrointestinal and renal complications may be observed during the disease course. The aim of this study was to evaluate the role of hematological markers in predicting the likely complications of the disease. METHODS: The demographic findings, clinical features, organ involvements and laboratory findings including white blood cell count (WBC), neutrophil, lymphocyte and platelet counts, C-reactive protein (CRP), erythrocyte sedimentation rate (ESR), neutrophil/lymphocyte ratio (NLR), platelet/lymphocyte ratio (PLR), mean platelet volumes (MPV), MPV/platelet count ratio (MPR) were evaluated retrospectively from the charts of the patients with HSP and all these parameters were compared with the same parameters of healthy children. RESULTS: A total of 376 patients with HSP and age- and sex-matched 233 healthy children were evaluated. Mean age at the diagnosis was 7.5 ± 3.5. All patients had palpable purpura, 46% had arthritis, 56.1% GIS involvement and 21.3% had renal involvement. While platelet counts, neutrophil counts, NLR, and PLR were higher, lymphocyte counts, MPV, and MPR were lower in patients with GIS involvement. NLR was the sole biomarker that was higher in patients with renal involvement. CONCLUSIONS: This study had shown that platelet counts, neutrophil counts, NLR, and PLR were increasing and lymphocyte counts, MPV, and MPR were decreasing when the patients had GIS involvement. However, these parameters were not relevant in distinguishing severe and mild GIS involvement. When patients had renal involvement NLR was the unique elevated parameter.

PROGRESS STUDY: Progression of chronic kidney disease in children and heat shock proteins.

Various molecular and cellular processes are involved in renal fibrosis, such as oxidative stress, inflammation, endothelial cell injury, and apoptosis. Heat shock proteins (HSPs) are implicated in the progression of chronic kidney disease (CKD). Our aim was to evaluate changes in urine and serum HSP levels over time and their relationships with the clinical parameters of CKD in children. In total, 117 children with CKD and 56 healthy children were examined. The CKD group was followed up prospectively for 24 months. Serum and urine HSP27, HSP40, HSP47, HSP60, HSP70, HSP72, and HSP90 levels and serum anti-HSP60 and anti-HSP70 levels were measured by ELISA at baseline, 12 months, and 24 months. The urine levels of all HSPs and the serum levels of HSP40, HSP47, HSP60, HSP70, anti-HSP60, and anti-HSP70 were higher at baseline in the CKD group than in the control group. Over the months, serum HSP47 and HSP60 levels steadily decreased, whereas HSP90 and anti-HSP60 levels steadily increased. Urine HSP levels were elevated in children with CKD; however, with the exception of HSP90, they decreased over time. In conclusion, our study demonstrates that CKD progression is a complicated process that involves HSPs, but they do not predict CKD progression. The protective role of HSPs against CKD may weaken over time, and HSP90 may have a detrimental effect on the disease course.

Acquired partial lipodystrophy with C3 hypocomplementemia and antiphospholipid and anticardiolipin antibodies.

Acquired partial lipodystrophy is an extremely rare condition of unknown etiology characterized by progressive loss of fat of the face, neck, trunk, and upper extremities. It usually begins during childhood and is more common in girls. C(3) hypocomplementemia is seen in 70% of patients with acquired partial lipodystrophy. Unlike generalized forms of the disease, no insulin resistance occurs. We present three boys with acquired partial lipodystrophy having C(3) hypocomplementemia. In addition, one of them had antiphospholipid and anticardiolipin antibodies.

Peritoneal dialysis as a life-saving procedure in an extremely low birth weight infant: case report and review of the literature.

BACKGROUND: Acute kidney injury (AKI) is a common condition in the neonatal intensive care unit (NICU), particularly in preterm infants. Management of AKI in neonates is challenging. Peritoneal dialysis (PD) has been preferred as the most applicable modality in neonates when medical therapy fails. CASE: A female infant was born at 24 and 4/7 weeks with a birth weight of 460 grams after an emergency cesarian section from a preeclamptic pregnacy. She developed AKI secondary to sepsis. A neonatal, straight single-cuff Tenckhoff catheter was inserted and PD was started on day 12. PD was discontinued after 6 days, on day 18 with adequate urine output and normalization of kidney function tests. However, the patient died on day 152 secondary to a nosocomial infection. CONCLUSION: To the best of our knowlegde, our case is the smallest infant in whom PD was performed succesfully with a PD catheter. PD is a relatively safe, effective and a feasible therapy in the neonatal population even in the smallest infants. PD may be a live-saving procedure in extremely low birth weight infants with severe AKI.

Primary coenzyme Q10 Deficiency-6 (COQ10D6): Two siblings with variable expressivity of the renal phenotype.

Primary coenzyme Q10 deficiency-6 (COQ10D6) is a rare autosomal recessive disorder caused by COQ6 mutations. The main clinical manifestations are infantile progressive nephrotic syndrome (NS) leading to end-stage renal disease and sensorineural deafness. A 7-year-old girl was diagnosed with steroid-resistant NS (SRNS) and an audiological work-up revealed bilateral sensorineural deafness. A renal biopsy demonstrated focal segmental glomerulosclerosis. Despite immunosuppressive therapy, her serum levels of creatinine increased and haemodialysis was indicated within 1 year after the diagnosis. Living-donor kidney transplantation was performed in the eighth month of haemodialysis. A diagnostic custom-designed panel-gene test including 30 genes for NS revealed homozygous c.1058C > A [rs397514479] in exon nine of COQ6. Her older brother, who had sensorineural hearing loss with no renal or neurological involvement, had the same mutation in homozygous form. COQ6 mutations should be considered not only in patients with SRNS with sensorineural hearing loss but also in patients with isolated sensorineural hearing loss with a family history of NS. The reported p.His174 variant of COQ8B was suggested to be a risk factor for secondary CoQ deficiency, while p.Arg174 appeared to improve the condition in a yeast model. Family segregation and the co-occurrence of biallelic p.Arg174 of COQ8B in a brother with hearing loss implied that the interaction of the altered COQ8B with the mutant COQ6 alleviated the symptoms in this family. CoQ10 replacement therapy should be initiated for these patients, as primary CoQ10 deficiency is considered the only known treatable mitochondrial disease.

The nutcracker syndrome: The usefulness of different MRI sequences for diagnosis and follow-up.

OBJECTIVE: Nutcracker Syndrome (NCS) is the extrinsic compression of the left renal vein by neighboring arterial, ligamentous, muscular, or osseous structures. Diagnosis is made by Doppler ultrasonography (US), multidetector computerized tomography (MDCT), magnetic resonance imaging (MRI), phlebography. The aim of the current study is to assess the value of MRI and compare the efficiency of different sequences in diagnosis and follow up of children with NCS. MATERIAL AND METHODS: A total of 40 children (female/male ratio 3:1) with NCS were included in this prospective study. A standardized abdominal MRI protocol was used and T2-TRUFI (True Fast Imaging with Steady-State Free Precession), T2-HASTE (Half Fourier Acquisition with Single Shot Turbo Spin Echo), T1-VIBE (Volumetric Interpolated Breath Hold Examination), and out-of-phase (opposed-phase) T1 sequences were obtained. The sequences were compared according to anatomical depiction, measurability, and pulsation artifact. RESULTS: A four point-scale was used to assess subjective image quality and the results were listed as: 1 = poor, 2 = fair, 3 = good, and 4 = excellent. Both in total and for each individual criterion, the highest scores were obtained with T2-TRUFI (total mean 3.74 ±â€¯0.45, anatomical depiction 3.9 ±â€¯0.3, measurability 3.8 ±â€¯0.4, aortic pulsation artifact 3.52 ±â€¯0.55). CONCLUSION: Although Doppler US is the gold standard technique in the diagnosis of NCS, MR imaging may be used as an additional modality, as it is superior to Doppler US in terms of anatomic depiction and a lower rate of imaging artifacts. Non-contrast MR imaging, particularly TRUFI sequence, may have an incremental value in the accurate diagnosis and follow-up of these patients.