Fatma Mutlubaş

Clinical outcome in children with Henoch-Schönlein nephritis

Henoch-Schönlein purpura (HSP) is the most common vasculitis in childhood. The long-term prognosis is variable and depends on renal involvement. The aim of this study was to evaluate both clinical features of the children with HSP and the prognoses of short- and long-term outcome of patients diagnosed as HSP nephritis (HSN). This is a retrospective data study of all children with HSP hospitalized from January 1991 to December 2005. The patients with HSN were classified according to their initial presentation, histologic findings, type of treatment and clinical outcome. All patients have been evaluated once every 2 months. Fifty-three of the patients had kidney biopsies. The patient population consisted of 141 children included 78 boys (55.3%) and 63 girls (44.7%) ranging in age at disease onset from 2 to 17 (8.9±3.29) years. Renal involvement was determined in 58.1%. Nephrotic and/or nephritic syndrome were found to be an unfavorable predictor both for short and long-term outcome (P<0.05). However, 35% of these patients and 62% of them showed complete remission after 6 months and long-term course. Overall prognosis of HSN is relatively good and long-term morbidity is predominantly associated with initial presentation and renal involvement.

Association Between Toll-like Receptors 4 and 2 Gene Polymorphisms With Chronic Allograft Nephropathy in Turkish Children

Toll-like receptor (TLR) gene polymorphism is known to impair intracellular signaling pathways following adaptive immune responses. Our aim was to investigate the distribution of TLR4 and TLR2 gene polymorphisms among pediatric renal transplantation patients in relation to chronic allograft nephropathy (CAN). In addition to 115 healthy controls, we included 69 renal recipients, 19 of whom were identified as CAN by biopsy scored according to the Banff criteria. Polymorphisms at TLR4 Asp299Gly and/or Thr399Ile were present in 11.6% of renal transplant recipients. None of these subjects was identified in cosegregation with the Thr399Ile allele, whereas three had an isolated Asp299Gly and five had an isolated Thr399Ile. Neither renal recipients nor healthy controls were homozygous for both Asp299Gly and Thr399Ile polymorphisms. However, TLR4 Thr399Ile polymorphism and Ile allele was greater among CAN (-) versus CAN (+) recipients (P > .05). The frequency of TLR2 mutant type Gln allele was significantly higher in recipients than among healthy controls (P < .0001). However, the Gln allele frequency was similar between CAN (+) and CAN (-) patients. The results of present study may be speculated to show TLR4 and TLR2 gene polymorphisms as protective factors from CAN development due to impaired immune responses.

A rare cause of neonatal hypertension: congenital mesoblastic nephroma

Soyaltın E, Alaygut D, Alparslan C, Özdemir T, Arslansoyu-Çamlar S, Mutlubaş F, Kasap-Demir B, Yavaşcan Ö. A rare cause of neonatal hypertension: Congenital mesoblastic nephroma. Turk J Pediatr 2018; 60: 198-200. A rare cause of neonatal hypertension: Congenital Mesoblastic Nephroma (CMN) is a rare renal tumor in childhood and has been reported with palpable abdominal mass, hypertension, hematuria, polyuria and hypercalcemia. Histopathologically it has been classified into two histological types: classic and cellular. We present a 32-week gestation infant and his histopathology reports of cellular CMN presented with refractory hypertension.

A novel homozygous w99g mutation in cldn-16 gene causing familial hypomagnesemic hypercalciuric nephrocalcinosis in turkish siblings

Alparslan C, Öncel EP, Akbay S, Alaygut D, Mutlubaş F, Tatlı M, Konrad M, Yavaşcan Ö, Kasap-Demir B. A novel homozygous W99G mutation in CLDN-16 gene causing familial hypomagnesemic hypercalciuric nephrocalcinosis in Turkish siblings. Turk J Pediatr 2018; 60: 76-80. Familial hypomagnesemic hypercalciuric nephrocalcinosis (FHHNC) (OMIM: 248250) is characterized by hypomagnesemia, hypercalciuria and nephrocalcinosis. FHHNC inevitably progresses to end-stage renal disease in decades. Mutations in CLDN-16 and CLDN-19 genes are associated with disrupted magnesium handling in the thick ascending limp of Henle`s loop. Patients with mutations in these genes share similar clinical features, and those with CLDN-19 gene mutations have ocular findings in addition. A 2-month-old boy, was admitted to our clinic with the complaints of upper respiratory tract infection. He was the first-born child of consanguineous parents. Laboratory findings revealed hypocalcemia and hypomagnesemia. Bilateral medullary nephrocalcinosis was detected on abdominal ultrasound. His ophthalmologic examination was unremarkable. With hypomagnesemia, hypercalciuria and nephrocalcinosis, the patient was considered to have FHHNC. Oral magnessium supplementation was initiated. Four years of follow-up has been completed uneventfully. When 6-days-old the brother of the case above was admitted with seizure. The patient was resistant to calcium and anticonvulsant drugs and the seizure activity could only be controlled after magnesium infusion. Biochemistry profile revealed hypocalcemia and hypomagnesemia. Urinary calcium extraction was 11 mg/kg/day. Medullary nephrocalcinosis was reported on renal ultrasound. His eye examination, echocardiography, transfontanel ultrasound and electroencephalography were normal. Due to the triad of hypomagnesemia, hypercalciuria and nephrocalcinosis, and the medical history of his elder brother, he was diagnosed with FHHNC. After correction of the electrolyte abnormalities, he was discharged from hospital and is currently being followed-up without any problem. In this manuscript, we shared our experience about a novel homozygous mutation (W99C) in CLDN-16 gene causing FHHNC in a couple of Turkish siblings.

Can a hand radiograph indicate a special diagnosis in a child with chronic kidney disease? Questions

A 5-year-old girl was admitted to the emergency department with diffuse edema on the eyelids and lower extremities and decreased urinary output. On physical examination, bibasilar crackles and distended abdomen with mild ascites were evident. Her height (100 cm) was below the 3rd percentile, weight (16 kg) was between the 10th and 25th percentiles, and blood pressure was 125/80 mmHg (>95p/95p). Her medical history was unremarkable, except for night blindness, which developed in the early childhood. There was no history of kidney disease in her family and her parents were nonconsanguineous. Laboratory tests at admission revealed a normal complete blood count. Dipstick urinalysis revealed a pH of 6, specific gravity of 1,015, 3+ red blood cells (+3), and trace proteinuria. Other laboratory findings were as follows: blood pH 7.30, pCO2 30mmHg, HCO3 19.8 mmol/L, urea 164 mg/dL, serum creatinine 6.3 mg/dL, albumin 4.1 g/dL, sodium 131 mmol/L, potassium 3.6 mmol/L, uric acid 8.3 mg/dL, magnesium 1.3 mg/dL, calcium 8.1 mg/dL, phosphorus 5.8 mg/dL, alkaline phosphatase 111 U/L, and parathyroid hormone 228.5 pg/ mL (normal 15–65 pg/mL). Tubular reabsorption of phosphate was 63.41% (normal >85%), fractional sodium excretion was 4.1% (normal <1%), and fractional potassium excretion was 22.8% (normal <15%). Urinary protein/creatinine ratio was 2.2. The GFR calculated using the Schwartz formula was 8.59mL/min/1.73 m, and creatinine clearance calculated upon 24-h collected urine was 14.6 mL/min/1.73 m. The ultrasound showed bilateral small kidneys (length, left kidney

Superselective Angiographic Embolization for Arteriovenous Fistula after a Protocol Biopsy in a Kidney Transplanted Child.

To the Editor : Percutaneously performed ultrasound-guided protocol renal transplant biopsy (TxBx) is a reliable method; however, this procedure carries risk of complications such as arteriovenous fistula (AVF). The incidence of AVF after biopsy is reported to be 0.5-16% [1].We, herein, report an 11-y-old boy with AVFwhich was successfully treated by superselective transcathater angiographic embolization (STAE). The boy was admitted with murmur in the abdominal area 1 y after the first year protocol biopsy. Indeed, there was a soft murmur over the graft thereafter, doppler ultrasound (dUS) and contrast-enhanced MR angiography showed an AVF (Fig. 1). His blood pressure, blood urea, creatinine and creatinine clearance were 105/70 mmHg (<95p/<95p), 60 mg/dl, 1.4 mg/dl and 63.5 ml/min/1.73 m, respectively. Selective renal allograft angiography was performed through the ipsilateral femoral artery and AVF was closed using Amplatzer vascular plug. A control angiogram showed complete and selective occlusion of the fistula (Fig. 2). Biochemical values were stable and graft dUS was normal at 6 and 12 mo after embolization. The risk of vascular complications associated with TxBx is higher than in native biopsies [2]. Although most of the AVF cases resolve spontaneously, some AVF can get larger and cause hypertension, renal rupture and allograft damage over time [3]. Close follow-up is generally advised and time to need for treatment is not predictable. STAE is the preferred treatment modality due to parenchymal and functional loss is minimal [4]. This minimally invasive endovascular procedure carries some complications such as acute renal infarction, hematuria, migration of coil and vascular injuries [5]. Loffroy et al. reported 12 cases of TxBx induced AVF treated by STAE. They reported that renal infarction was a minor

A rare cause of chronic renal failure in a girl with elevated serum uric acid level: question

This 15-year-old girl was the only child born to nonconsanguineous parents of Turkish background. She showed normal development and had an unremarkable history. She was admitted with right first-finger pain, weakness, and lack of appetite of 10-day duration. The family history was not significant for a systemic disease. On physical examination, she looked pale. She weighed 41 kg (5th percentile) and was 153 cm tall (8th percentile). Blood pressure was 110/70 mmHg. There was no evidence of arthritis. The rest of the physical examination was unremarkable. Baseline laboratory test values were as follows: white blood cells 14,700/μl, hemoglobin 7.4 g/dl, hematocrit 21.1%, platelets 242,000/μl. Urea, creatinine, and uric acid levels were found to be 103 mg/dl, 1.2 mg/dl, and 11.3 mg/dl, respectively, and measured creatinine clearance was 42 ml/min per 1.73 m. Daily urine output was normal (1.5–2.4 ml/kg per hour), with a urine osmolarity of 350 mOsm/L. Tubular reabsorption of phosphate was 80% (normal range ≥85%), and fractional excretion of uric acid (FEua) was 1.6–2.5% (normal range >14±5.3%). Urine analysis did not show glycosuria, proteinuria, aminoaciduria, hypercalciuria, hyperlactaturia, or ketonuria. There were no red and white blood cells. Urine culture showed no growth. Renal ultrasound (USG) demonstrated bilateral renal parenchymal hyperechogenicity with normal dimensions and without ureteral dilatation or renal cysts.

Epidermolysis bullosa dystrophica with renal failure due to secondary amyloidosis

Epidermolysis bullosa dystrophica is a rare hereditary disorder with multiple bullous lesions, erosions and repeated infections. Although skin lesions can be treated with dermatologic care, the patient can also be complicated by life-threatening clinics such as nephropathy, systemic amyloidosis and skin cancers by years. A 16-year-old male who had been followed-up since birth with epidermolysis bullosa dystrophica referred to the nephrology department for nephrotic proteinuria and deep anemia. He went on renal biopsy that demonstrated AA amyloidosis. Although effective colchicine treatment was given, end stage renal disease developed after 6 months that resulted in the death of the patient. Epidermolysis bullosa causes a chronic inflammatory process that progresses with time and can be fatal. Colchicine treatment must be given before the onset of amyloidosis.