Hulya Nalcacioglu

Eculizumab therapy in a patient with dense-deposit disease associated with partial lipodystropy.

BackgroundDense deposit disease (DDD) (also known as membranoproliferative glomerulonephritis type II) in childhood is a rare glomerulonephritis with frequent progression to end-stage renal disease (ESRD) and a high recurrence after kidney transplantation. The pathophysiologic basis of DDD is associated with the uncontrolled systemic activation of the alternative pathway (AP) of the complement cascade.Case-diagnosis/treatmentA 14-year-old girl presented with edema and nephrotic range proteinuria. Blood tests showed hypoalbuminemia, nephrotic range proteinuria, normal renal function, and a low C3 level. Renal biopsy confirmed the diagnosis of crescentic DDD. Complement analysis revealed strong AP activation (low C3), positive C3 nephritic factor (C3NeF), and a decreased complement factor H (CFH) levels with CFH polymorphisms. Therapy with eculizumab was considered after the failure of corticosteroid and plasmapheresis to modulate the ongoing massive proteinuria and persistence of low serum C3 levels. There was a marked clinical and biochemical response following the administration of eculizumab.ConclusionsOur case emphasizes the efficacy of eculizumab in the management of crescentic DDD in a patient with a normal renal function, in a short follow-up period. Considering previously reported cases, it appears that eculizumab represents a promising new approach which may prevent progression to ESRD in a subset of patients with DDD.

An uncommon cause of acute kidney injury in young children: Cystinuria

UNLABELLED Bilateral obstructive nephrolithiasis is a rare cause of acute kidney injury (AKI) in early childhood. As soon as the identification of AKI secondary to ureteral stone is made, it will necessitate an emergency treatment. PATIENTS We report three infants with AKI caused by bilateral obstructive ureteral cystine stones. They were diagnosed with acute post-renal injury due to obstructive bilateral ureteral stones based on ultrasound scan findings. Immediately, bilateral ureteral stents were inserted for urinary drainage. Once renal function recovered to normal, each patient underwent ureteroscopy and percutaneous nephrolithotomy at the same session. Cystinuria was diagnosed by stone analysis and increased urinary excretion of cystine. Patients were advised to maintain a high fluid intake and were treated with potassium citrate in addition to tiopronin. CONCLUSIONS With these three cases we would like to emphasize the importance of urolithiasis in the differential diagnosis of acute renal failure in young children, since urolithiasis may only cause nonspecific symptoms in this population. An early diagnosis with prompt treatment and a close follow-up are the key for achieving the best long-term outcome in cystinuria.

Acute renal failure due to severe hypercalcemia and nephrocalcinosis treated with two doses of pamidronate in an infant with williams-beuren syndrome

Baştuğ F, Nalçacıoğlu H, Baş VN, Tekatlı-Çelik B, Çetinkaya H, Yel S. Acute renal failure due to severe hypercalcemia and nephrocalcinosis treated with two doses of pamidronate in an infant with Williams-Beuren syndrome. Turk J Pediatr 2018; 60: 210-215. Infantile hypercalcemia has been reported in 15% of infants and children with Williams-Beuren syndrome (WBS) and has generally mild clinical symptoms. However, the need for pamidronate treatment in a few infants with severe hypercalcemia associated with WBS has been reported in literature. Many disorders, such as primary hyperoxaluria, associated with nephrocalcinosis can lead to renal failure, but there are only a few reports in infants with WBS who have decreased renal function and nephrocalsinosis. We present a 23-month-old girl with WBS (confirmed with fluorescent in situ hybridization probes) who presented with acute renal failure with severe symptomatic hypercalcemia and nephrocalcinosis, which responded to two infusions of pamidronate.

Disseminated fungal infection by Aureobasidium pullulans in a renal transplant recipient

Renal transplant recipients are on long‐term potent immunosuppressive therapy, which makes them highly vulnerable to opportunistic fungal infections. Dematiaceous, or dark‐pigmented saprophytic fungi, are being increasingly seen as opportunistic pathogens of mycoses in immunosuppressed patients. One of these is Aureobasidium pullulans, which is a black yeast‐like dematiaceous fungus found ubiquitously in the environment that can cause various opportunistic human infections. Most infections occur by traumatic inoculation, such as keratitis and cutaneous lesions; disseminated mycoses are very rare and occur only in severely immunocompromised patients. We report a case of disseminated fungal infection due to A. pullulans in a pediatric patient who underwent renal transplant. The use of voriconazole and vacuum‐assisted closure along with surgical drainage most likely contributed to the patients positive outcome.

Response to early coenzyme Q10 supplementation is not sustained in CoQ10 deficiency caused by CoQ2 mutation

BACKGROUND COQ2 mutations cause a rare infantile multisystemic disease with heterogeneous clinical features. Promising results have been reported in response to Coenzyme Q10 treatment, especially for kidney involvement, but little is known about the long-term outcomes. METHODS We report four new patients from two families with the c.437G→A (p.Ser146Asn) mutation in COQ2 and the outcomes of two patients after long-term coenzyme Q10 treatment. RESULTS Index cases from two families presented with vomiting, nephrotic range proteinuria, and diabetes in early infancy. These patients were diagnosed with coenzyme Q10 deficiency and died shortly after diagnosis. Siblings of the index cases later presented with neonatal diabetes and proteinuria and were diagnosed at the first day of life. Coenzyme Q10 treatment was started immediately. The siblings responded dramatically to coenzyme Q10 treatment with normalized glucose and proteinuria levels, but they developed refractory focal clonic seizures beginning at three months of life that progressed to encephalopathy. CONCLUSIONS In our cohort with CoQ10 deficiency, neurological involvement did not improve with oral coenzyme Q10 treatment despite the initial recovery from the diabetes and nephrotic syndrome.

Nutcracker Syndrome in Children: Role of Doppler Ultrasonographic Indices in Detecting the Pattern of Symptoms

The purpose of this study was to evaluate the clinical characteristics of 44 pediatric patients who were diagnosed as having nutcracker syndrome (NCS). We also investigated the left renal vein Doppler ultrasonography (DUS) results, to determine whether or not there was an association between clinical symptoms and DUS findings among these patients. The clinical data from 44 pediatric patients who were diagnosed as having NCS from January 2008 to December 2015 were retrospectively reviewed. We grouped the patients according to the presenting symptoms as symptomatic (loin pain; macroscopic hematuria or both) and non-symptomatic (microscopic hematuria and proteinuria were detected incidentally) and evaluated the left renal vein DUS indices in these two groups separately. Asymptomatic NCS was found in 27 (61.4%) patients; 21 (47.7%) of whom were admitted for the evaluation of proteinuria. The most frequent presenting symptoms were left flank pain (20.5%) and macroscopic hematuria (13.6%); and 2 (4.5%) patients presented with a combination of left flank pain and macroscopic hematuria. The mean ratio of the diameter of the hilar portion of the left renal vein (LRV) to that of the aortomesenteric portion was 4.36 ± 1.55. The mean ratio of the peak velocity (PV) between the two sites of the LRV was 7.32 ± 2.68 (3.1–15.6). The differences in the ratio of the diameters were statistically significant between the two groups and significantly higher in children with asymptomatic NCS (p = 0.025). The PV ratios of the LRV (p = 0.035) were significantly higher in asymptomatic children with NCS than in the symptomatic group. Our study identifies that increased compression ratio of the LRV entrapment is most observed in orthostatic proteinuria and microscopic hematuria.

Abdominal pain in a 5-year-old girl with bilateral nephromegaly: Answers

Renal involvement in non-Hodgkin lymphoma is a recognized development, but it mostly follows a diagnosis of lymphoma. We describe a rare case of a T-cell-type non-Hodgkin lymphoma that first presents as nephromegaly in a 5-year-old girl admitted to the emergency department with abdominal pain. Further investigation revealed bilateral nephromegaly, but the results of blood tests, imaging studies, and bone marrow aspiration were inconclusive. During the second week of hospitalization, significant physical examination revealed an enlarged lymph node in the anterior cervical chains, confirming a diagnosis of Non-Hodgkin’s lymphoma. This case illustrates that it is important to have a high degree of suspicion in any patient presenting with unexplained enlarged kidneys without any identifiable cause because it could be the first presentation of a hematologic malignancy.

Functional Capacity, Strength, and Quality of Life in Children and Youth With Familial Mediterranean Fever

Purpose: To examine functional capacity and muscle strength in children and youth with familial Mediterranean fever (FMF) as compared with controls, and to assess whether these factors influence quality of life (QOL) in FMF. Methods: A total of 100 subjects with FMF and 55 control subjects (8-18 years old) without known health issues were enrolled in the study. The 6-Minute Walk Test (6MWT) was used to evaluate functional capacity. Quadriceps strength was measured with a hand-held dynamometer. Quality of life was evaluated with the Pediatric Quality of Life Inventory 4.0 (PedsQL 4.0). Results: Significant differences were found between subjects with FMF and controls in the 6MWT and strength test. PedsQL scores of subjects with FMF were significantly lower than the scores of the controls. The 6MWT and quadriceps strength were weakly correlated with the PedsQL. Conclusion: Subjects with FMF displayed lower functional capacity and QOL than peers who are healthy. Decreased functional capacity was correlated with decreased QOL in those with FMF.

P01-036 – Systemic amyloidosis presenting with amyloidoma

Amyloidosis is a heterogeneous group of disorders characterized by extracellular deposition of unique protein fibrils. The least common presentation of an amyloid deposition is as a discrete mass called amyloidoma or amyloid tumor. It has been reported in many anatomic site including the respiratory, genitourinary, and gastrointestinal tracts, as well as internal viscera, the central nervous system, skin, breast, and soft tissues. We report a case of a soft tissue amyloidoma in the abdomen of an 16-year-old girl diagnosed with systemic amyloidosis.

A rare cause of nephrotic syndrome in a 14-year-old boy: questions.

A previously healthy 14-year-old boy was presented with a 10-day history of progressive periorbital and bilateral lower extremity edema. He also noted that the frequency and amount of his urine had decreased. He had no gross hematuria, no recent sore throat, or upper respiratory tract infections. His medical history was unremarkable, with no known history of kidney disease. Physical examination on admission was unremarkable except for moderate edema on bilateral eyelids and lower extremities. His cardiovascular, respiratory, neurological, and genitourinary exams were all normal. Blood pressure was 130/80 mmHg. His height was 151 cm (25–50 p) andweight was 44.5 kg. Laboratory findings revealed that he had marked hypoalbuminemia (2.1 g/dl) with heavy proteinuria (5167 mg/dl, or 20 mg/mg creatinine) and microscopic hematuria (ten red blood cells/HPFwith no red blood cell casts). Hyperlipidemia (T-Chol 225 mg/dl, TG 263 mg/dl) was also noted. Serum complements were normal (C3 0. 8 g/L, C4 0. 4 g/L), and anti-nuclear antibody was negative. Renal function was intact (creatinine 0.7 mg/dl, BUN 20 mg/dl). HBs antigen, HCVantibody, and human immunodeficiency virus (HIV) were all negative. There was no evidence of streptococcal infection. Based on his clinical and laboratory findings, he was diagnosed as having nephrotic syndrome. The patient was hospitalized and investigated for the etiology of the nephrotic syndrome. During the work-up for a renal biopsy, a cystic mass in the right upper abdomenwas found by ultrasonography and confirmed by computed tomography (CT) scan (Fig. 1).