Eva Kiss

Clinical Features and Histopathological Spectrum in Adolescent Onset Nephrotic Syndrome in a Romanian Children Population

Abstract Objectives of study: The adolescent population signifies the transitory period where the frequent occurrence of different histopathological lesions in patients with nephrotic syndrome (NS) is different from that seen in young children as well as that seen in adults. This study aimed to analyze the clinical features and histopathological spectrum of adolescent-onset NS. Material and methods: We retrospectively evaluated clinical features, biochemical investigations and histopathology of 103 children with idiopathic NS referred to the Pediatric Department, County Hospital of Târgu-Mureş. Fourteen patients with congenital-, infantil- and secondary NS were excluded from this study. Results: The patients were divided into 2 groups: in group A we included 69 patients diagnosed with NS diagnosed before 10 years-old, with a median age of 3.76±1.96 years, majority males (59.42%) and presenting the pure form of NS. On the other hand, in group B we included 20 adolescents having the median age at the onset of the disease 13.61±2.18 years, with equal distribution of the sexes and presenting the impure form in 65% of cases. The majority of the patients in both groups (68.11% and 70% respectively) responded to steroid therapy. The commonest histopathological subtype in both groups was focal segmental glomerulosclerosis. Conclusions: The incidence of nephrotic syndrome has increased in the last years. The impure form of NS is more frequent in the adolescents than in younger patients. Adolescents with impure and steroid-resistant NS at presentation have other lesions than minimal change disease. The early genetic diagnosis in NS is important for proper clinical management of the patients, prognosis and genetic counseling of the families.

Genitourinary tuberculosis in children - a diagnostic challenge

Abstract Pediatricians frequently encounter hematuria in children. One of the tardy complication of pulmonary tuberculosis, which is most characteristic and common in teenagers and middle aged, is represented by genitourinary tuberculosis. Renal tuberculosis is rare during childhood. The authors present a series of cases where the presenting symptom was gross or microscopic persistent hematuria. The diagnosis of urogenital tuberculosis was established from early-morning urine culture in all cases. In a patient with symptoms of recurrent urinary tract infection or hematuria associated with sterile pyuria the suspicion of GUTB must be considered. A delayed diagnosis of renal tuberculosis led to kidney damage and sequels of GUTB, including renal failure. Our cases report emphasizes that in case of persistent hematuria GUTB may be considered as a differential diagnosis Rezumat Pediatrii se confruntă frecvent în practică cu hematuria. Tuberculoza genito-urinară (GUTB) este una dintre complicaţiile tardive ale tuberculozei pulmonare, mai frecventă fiind în rândul tinerilor şi a adulţilor. Tuberculoză renală este rară în copilărie. Autorii prezentă o serie de cazuri în care simptomul principal a fost hematuria macro sau microscopică persistentă. În toate cazurile diagnosticul de tuberculoză urogenitală a fost stabilit prin cultura realizată din prima urină de dimineaţă. Suspiciunea de GUTB trebuie avută în vedere, de fiecare dată când pacientul se prezintă cu infecţii urinare recidivante sau hematurie asociată cu piurie sterilă. Diagnosticul precoce al tuberculozei renale poate preveni sechelele tardive, inclusiv insuficienţa renală. Prezentarea de faţă subliniază faptul că GUTB trebuie considerată ca şi diagnostic diferenţial al hematuriei persistente la copii

A Rare Case of Double-System With Ectopic Ureteral Openings Into Vagina

The presence of an ectopic ureter may be indicated by continuous wetting, despite a normal voiding pattern, especially in girls. In most cases, an ectopic ureter is associated with a duplex collecting system and complete ureteral duplication. A 5-year-old girl presented with urinary incontinence regardless of the successful toilet training and a suspicion of left duplex kidney on a previous ultrasound. Contrast-enhanced computed tomography revealed a double left kidney with double ureters, both inserting together into the vagina. The surgical treatment consisted in the “en block” reimplantation of the ectopic ureters into the bladder, with complete resolution of the symptoms. The reported case does not represent just a typical presentation of a single ectopic ureter, as the duplex kidney system had ectopic both ipsilateral ureters (with insertion into the vagina). This case reminds us that congenital abnormalities of the genito-urinary tract should be considered in case of urinary incontinence and recurrent urinary tract infections.

The importance of genetic testing in adolescent-onset steroid-resistant nephrotic syndrome - Case report/ Importanţa testării genetice la adolescenţii cu sindrom nefrotic corticorezistent – Prezentări de caz

Abstract Approximately 10-20% of children and 40% of adults with idiopathic nephrotic syndrome are steroid resistant and progress to end-stage renal disease requiring dialysis or renal transplantation. In these cases, renal histology typically shows focal segmental glomerulosclerosis. Mutations in NPHS1, NPHS2, WT1, CD2AP and ACTN4 genes located on different chromosomes, expressed by glomerular podocytes, have been identified in patients with steroid-resistant nephrotic syndrome. The authors report two cases of adolescent-onset steroid-resistant nephrotic syndrome. Both cases had similar clinical and histopathological manifestations, with different prognosis and evolution due to different mechanisms leading to proteinuria: an acquired and a genetic form. The first case, a 16 year old girl presented the onset of the disease with massive, generalized edema, secondary hypothyroidism and high blood pressure. Evolution was favorable under cyclosporine therapy. The second case, a 13-years-old adolescent girl, presented an insidious onset of the disease with mild edema. Genetic testing revealed a mutation in the WT1 gene. The patient developed end-stage kidney failure eight months after the onset of the disease and following kidney transplant had a favorable evolution. Histological examination of the renal biopsy specimen showed focal segmental glomerulosclerosis in both cases. Conclusions: Genetic forms of nephrotic syndrome do not respond to immunosuppressive therapy and may progress to end-stage renal disease, but after kidney transplantation relapse is not expected, in contrast to the immune form. The early genetic diagnosis in steroid-resistant nephrotic syndrome is time-consuming, but is important for proper clinical management of the patients, prognosis and genetic counseling of the families. Rezumat Autorii prezintă două cazuri de sindrom nefrotic cortico-rezistent cu debut în adolescenţă, cu manifestări clinice şi histopatologice similare (scleroză glomerulară focal-segmentală), dar cu mecanisme diferite de producere a proteinuriei: o formă dobândită şi una genetică, având astfel prognostic şi evoluţie diferită. Primul caz, o adolescentă de 16 ani prezintă debutul bolii brusc cu edeme masive, generalizate, cu răspuns favorabil la tratamentul cu ciclosporină. A doua pacientă, o adolescentă de 13 ani, a prezentat sindrom nefrotic corticorezistent cu debut insidios cu edeme uşoare. În acest caz testarea genetică a evidenţiat o mutaţie în gena WT1, iar evoluţia a fost rapidă (în 8 luni) către insuficienţă renală terminală, dar cu evoluţie şi prognostic favorabil după transplant renal. Concluzii: Formele genetice ale sindromului nefrotic nu răspund la tratamentul imunosupresiv şi pot evolua către boală renală terminală, dar după transplant recăderea este puţin probabilă, în contrast cu formele imune. Diagnosticul genetic precoce în sindromul nefrotic cortico-rezistent este important pentru managementul optim al pacienţilor, precizarea prognosticului, respectiv pentru consilierea genetică a familiei