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Background C3 glomerulopathy (C3G) is characterized by heterogeneous clinical presentation, outcome, and predominant C3 accumulation in glomeruli without significant IgG. There is scarce outcome data regarding childhood C3G. We describe clinical and pathological features, treatment and outcomes, and risk factors for progression to chronic kidney disease stage 5 (CKD5) in the largest pediatric series with biopsy-proven C3G. Methods Sixty pediatric patients with C3G from 21 referral centers in Turkey were included in this retrospective study. Patients were categorized according to CKD stage at last visit as CKD5 or non-CKD5. Demographic data, clinicopathologic findings, treatment, and outcome data were compared and possible risk factors for CKD5 progression determined using Cox proportional hazards model. Results Mean age at diagnosis was 10.6 ± 3.0 years and follow-up time 48.3 ± 36.3 months. Almost half the patients had gross hematuria and hypertension at diagnosis. Nephritic-nephrotic syndrome was the commonest presenting feature (41.6%) and 1/5 of patients presented with nephrotic syndrome. Membranoproliferative glomerulonephritis was the leading injury pattern, while 40 patients had only C3 staining. Patients with DDD had significantly lower baseline serum albumin compared with C3GN. Eighteen patients received eculizumab. Clinical remission was achieved in 68.3%. At last follow-up, 10 patients (16.6%) developed CKD5: they had lower baseline eGFR and albumin and higher frequency of nephrotic syndrome and dialysis requirement than non-CKD5 patients. Lower serum albumin and eGFR at diagnosis were independent predictors for CKD5 development. Conclusions Children with C3G who have impaired kidney function and hypoalbuminemia at diagnosis should be carefully monitored for risk of progression to CKD5. Graphical abstract, Author(s): Ayse Seda Pinarbasi [sup.1] , Ismail Dursun [sup.1] , Ibrahim Gokce [sup.2] , Elif Çomak [sup.3] , Seha Saygili [sup.4] , Meral Torun Bayram [sup.5] , Osman Donmez [sup.6] [...]

The mapping of autosomal-recessive nonsyndromic hearing impairment segregated in a large consanguineous family of Turkish origin to chromosome 14q24.3-q34.12 is described. It is indicated that ESRRB is essential for inner-ear development and function.

Background: C3 glomerulopathy (C3G) is characterized by heterogeneous clinical presentation, outcome, and predominant C3 accumulation in glomeruli without significant IgG. There is scarce outcome data regarding childhood C3G. We describe clinical and pathological features, treatment and outcomes, and risk factors for progression to chronic kidney disease stage 5 (CKD5) in the largest pediatric series with biopsy-proven C3G. Methods: Sixty pediatric patients with C3G from 21 referral centers in Turkey were included in this retrospective study. Patients were categorized according to CKD stage at last visit as CKD5 or non-CKD5. Demographic data, clinicopathologic findings, treatment, and outcome data were compared and possible risk factors for CKD5 progression determined using Cox proportional hazards model. Results: Mean age at diagnosis was 10.6 ± 3.0 years and follow-up time 48.3 ± 36.3 months. Almost half the patients had gross hematuria and hypertension at diagnosis. Nephritic-nephrotic syndrome was the commonest presenting feature (41.6%) and 1/5 of patients presented with nephrotic syndrome. Membranoproliferative glomerulonephritis was the leading injury pattern, while 40 patients had only C3 staining. Patients with DDD had significantly lower baseline serum albumin compared with C3GN. Eighteen patients received eculizumab. Clinical remission was achieved in 68.3%. At last follow-up, 10 patients (16.6%) developed CKD5: they had lower baseline eGFR and albumin and higher frequency of nephrotic syndrome and dialysis requirement than non-CKD5 patients. Lower serum albumin and eGFR at diagnosis were independent predictors for CKD5 development. Conclusions: Children with C3G who have impaired kidney function and hypoalbuminemia at diagnosis should be carefully monitored for risk of progression to CKD5. Graphical abstract [ABSTRACT FROM AUTHOR]

A 4-year-old Turkish girl was referred to our hospital with the findings of encephalopathy and pancytopenia. She had a history of severe abdominal cramps and gastrointestinal bleeding. A confused state, muscle pain and weakness, erythema-bullous and erythema-nodosum-like skin lesions, and alopecia were observed at her hospitalization. All of these symptoms resolved on follow-up. On laboratory investigation severe thrombocytopenia and leukopenia, mild anemia, a moderate increase in aspartate aminotransferase and alanine aminotransferase levels were detected. After reevaluating her medical history, it was learned that she had accidentally taken 1.3 to 1.5 mg/kg of colchicine 3 to 4 days before her first hospitalization. The possibility of misdiagnosis of colchicine intoxication should be borne in mind, and pediatricians must be aware of its toxic effects, especially in areas where patients with familial Mediterranean fever are present. Pediatrics 2002;109:971-973; colchicine, intoxication, children, late diagnosis., Familial Mediterranean fever (FMF) is a relatively common disease in the Mediterranean and in the Middle East. Colchicine has been routinely used for the prevention of acute attacks of FMF [...]

The article focuses on the case of a 14 year-old girl diagnosed with rhabdomyolysis, which is a rare presentation of hypokalemia. The patient based on initial assessment was diagnosed with rhadomyolysis after being seen with weakness of lower limbs, increased creatinine phosphokinase and mild tubulopathy. The patient underwent a right-sided total adrenalectomy, in which the tumor was encapsulated similar to that of the adenoma macroscopically. This case is the first of adrecortical adenoma with rhabdomyolysis to be recorded in a child.

Tricyclic antidepressant (TCA) overdose is one of the common causes of drug poisoning and it has cardiovascular, respiratory and neurological side effects. An 18-month male infant was admitted to our pediatric emergency service due to poisoning with amitriptyline. The infant was unconscious. Tachycardia, irregular and shallow breathing, and tonic-clonic seizures were observed on physical examination. An electrocardiogram displayed a narrow complex tachycardia that was consistent with re-entrant supraventricular tachycardia (SVT). Although antiarrhythmic and anticonvulsive agents were administrated, SVT and seizures persisted. Charcoal hemoperfusion (HP) was performed for 4 hours. The infant’s clinical condition has improved after the charcoal HP, seizures and SVT were not observed. It is concluded that charcoal HP can be used efficiently in patients with severe amitriptyline intoxication. [ABSTRACT FROM PUBLISHER]

Membranoproliferative glomerulonephritis type II (MPGN II) is a rarely encountered disease that leads to accumulation of "dense deposits" in the kidneys and chorioretinal tissues. We present the ophthalmologic and spectral domain optical coherence tomography (SD-OCT) findings of a 13-year-old boy with pathologically proven MPGN II followed up at the pediatric nephrology clinic. The patient did not have any ocular symptoms, fundus examination showed yellowish deposits and the SD-OCT demonstrated an influence on the retinal pigment epithelium - choriocapillary complex. As shown in this study, the evaluation of the findings on SD-OCT, which allows non-invasive visualization of the pathologies involving chorioretinal tissues, may be helpful in the diagnosis of the MPGN II. [ABSTRACT FROM AUTHOR]