Prognostic value of glomerular collagen IV immunofluorescence studies in male patients with X-linked Alport syndrome.

Background And Objectives: X-linked Alport syndrome (X-AS) is caused by mutations of the COL4A5 gene, which encodes for the collagen IV α5 chain (α5[COLIV]), resulting in structural and functional abnormalities of the glomerular basement membrane (GBM) and leading to CKD. The aim of the present study was to evaluate the prognostic value of residual collagen IV chain expression in the GBM of patients with X-AS.

Design, Setting, Participants, & Measurements: The medical records of 22 patients with X-AS from 21 unrelated families collected between 1987 and 2009 were reviewed (median age at last follow-up, 19.

Penile repair in patients with epispadias-exstrophy complex-can we prevent resultant hypospadias?

Purpose: Male genitalia reconstruction in patients with exstrophy-epispadias complex often leads to secondary hypospadias, thus requiring additional surgery and resulting in possible complications. We describe a technique of male epispadias repair to prevent resultant hypospadias.

Materials And Methods: The complete penile disassembly technique is modified by multiple Z-plasties, which enable creation of a funnel-like bladder neck and urethral plate lengthening.

Distribution of cystinosin-LKG in human tissues.

Nephropathic cystinosis is multisystemic progressive disorder caused by mutations of CTNS gene that encodes for the lysosomal cystine co-transporter cystinosin, and for a less abundant isoform termed cystinosin-LKG, which is expressed in not only lysosomes but also other cell compartments. To overcome the absence of high-quality antibodies against cystinosin, we have obtained a rabbit antiserum against cystinosin-LKG and have analyzed in human tissues the expression of the two known cystinosin isoforms by RT-PCR, and the expression of cystinosin-LKG by immunohistochemistry. In most tissues, CTNS-LKG represents 5-20 % of CTNS transcripts, with the exception of the testis that expresses both isoforms in equal proportions.

Selective arterial embolization of giant renal tuberous sclerosis.

Different minimally invasive methods have been proposed to treat renal manifestation of tuberous sclerosis complex (TSC), in order to preserve kidney parenchyma and avoid nephrectomy. The case of a boy with bleeding giant angiomyolipoma treated by selective arterial embolization is discussed. The extensive renal lesions resulted significantly decreased, with resolution of arterial hypertension and abdominal symptoms.

Bladder augmentation using acellular collagen biomatrix: a pilot experience in exstrophic patients.

Purpose: A preliminary experience on in vivo bladder wall regeneration in a subset of patients born with exstrophy-epispadias complex is reported. The objective was to improve bladder capacity and compliance without bowel augmentation.

Methods: Five patients (3 males, 2 females), mean age 10.

Renal mitochondrial cytopathies.

Renal diseases in mitochondrial cytopathies are a group of rare diseases that are characterized by frequent multisystemic involvement and extreme variability of phenotype. Most frequently patients present a tubular defect that is consistent with complete De Toni-Debré-Fanconi syndrome in most severe forms. More rarely, patients present with chronic tubulointerstitial nephritis, cystic renal diseases, or primary glomerular involvement.

Posterior urethral valves: long-term outcome.

Posterior urethral valves represent the most common cause of bladder outlet obstruction in infancy that impairs renal and bladder function. Long-term outcome of patients with previous PUV is evaluated. Patients over 18 years of age, treated from 1982 to 1995 before the age of 3 years were considered.

Renal involvement in mitochondrial cytopathies.

Mitochondrial cytopathies constitute a group of rare diseases that are characterized by their frequent multisystemic involvement, extreme variability of phenotype and complex genetics. In children, renal involvement is frequent and probably underestimated. The most frequent renal symptom is a tubular defect that, in most severe forms, corresponds to a complete De Toni-Debré-Fanconi syndrome.

Parathyroid hormone levels in long-term renal transplant children and adolescents.

Secondary hyperparathyroidism is a common complication of chronic renal failure. Kidney transplantation corrects renal insufficiency and most metabolic abnormalities but hyperparathyroidism persists in 50% of children after transplantation. The aim of this study was to investigate parathyroid hormone (PTH) course and potential risk factors for hyperparathyroidism in children after renal transplant.

Current state of nerve stimulation technique for lower urinary tract dysfunction in children.

Purpose: A variety of electrical nerve stimulation methods has been used through the years to treat lower urinary tract dysfunction. Relevant literature was reviewed to analyze techniques and available biomedical devices, technique applicability, indications and usefulness in pediatrics.

Materials And Methods: An extensive search was performed on PubMed® and MEDLINE® for scientific publications on intravesical, transcutaneous, sacral spine and root, and tibial nerve stimulation in children with lower urinary tract dysfunction of nonneurogenic and neurogenic origin.

Usefulness of skin immunofluorescence for distinguishing SLE from SLE-like renal lesions: a pilot study.

Lupus nephritis (LN) may represent a diagnostic problem, particularly in pediatric patients that present with typical histological lesions but do not fulfill the American Rheumatism Association (ARA) criteria for the diagnosis of systemic lupus erythematosus (SLE). Based on the well-described deposition of immunoglobulins (Ig) and complement at the dermoepithelial junction in SLE, we hypothesized that skin biopsies may help in the diagnosis of LN. To test this hypothesis, we carried out a pilot study, performing a skin biopsy in 22 patients with LN and 13 patients with lupus-like lesions, regardless of the time elapsed from onset of renal disease.

Serum creatinine levels are significantly influenced by renal size in the normal pediatric population.

Background And Objectives: Clinical and experimental data have shown that differences in nephron endowment result in differences in renal mass and predisposition to chronic renal failure, hypertension, and proteinuria. We hypothesized that a significant proportion of the variance in GFR, as estimated by serum creatinine, is attributable to differences in renal size in normal children.

Design, Setting, Participants, & Measurements: A total of 1748 normal renal ultrasounds that were performed in children older than 6 months were reviewed.

Bladder injuries following inguinal canal surgery in infants.

Purpose: Surgery of the inguinal canal is very common in infancy. Occasionally, injury of the bladder may occur with severe consequences. The aim of this paper was to warn young surgeons of this serious complication.

Long-term outcome of nephropathic cystinosis: a 20-year single-center experience.

Nephropathic cystinosis (NC) is a severe disease that is complicated by early-onset chronic renal failure (CRF) and other complications related to cystine deposition in tissue. Since the 1980s, the prognosis of NC has dramatically improved after the introduction of cysteamine treatment. Limited data are available documenting improvement in prognosis.

Validity of the international consultation on incontinence questionnaire-pediatric lower urinary tract symptoms: a screening questionnaire for children.

Purpose: Lower urinary tract symptoms are common in pediatric patients. To our knowledge no validated instruments properly designed to screen lower urinary tract symptoms in the pediatric population have been published to date. In the International Consultation on Incontinence Questionnaire Committee the psychometric properties of a screening questionnaire for pediatric lower urinary tract symptoms were assessed.

Renal transplantation in patients with "valve bladder": is bladder augmentation necessary?

Introduction: Posterior urethral valve is a common cause of renal failure in children. This disorder often results in small bladder and low compliance, which frequently requires bladder augmentation. Herein, we report our experience in 5 children with "valve bladder" who underwent renal transplantation without preliminary bladder enlargement.

Analysis of CTNS gene transcripts in nephropathic cystinosis.

Nephropathic cystinosis (NC) is an autosomal recessive disorder caused by mutations of the CTNS gene that encodes for a cystine transmembrane transporter. Several mutations have been described in the coding and promoter regions of the CTNS gene in affected individuals. We selected three patients with NC from two unrelated families, in whom sequence analysis of the CTNS gene detected only one or no mutations.

Cyclosporine A treatment in patients with Alport syndrome: a single-center experience.

Limited and discordant data are available on cyclosporine A (CsA) treatment for proteinuria in Alport syndrome (AS). To address this lack of consistent data, we have studied 15 AS patients (14 males; mean age 15.3 +/- 6.

Modulation of CTNS gene expression by intracellular thiols.

The cysteine/cystine (Cys/CySS) couple represents one of the major cell thiol/disulfide systems and is involved in the regulation of several metabolic pathways and the cell redox state. Nephropathic cystinosis (NC) is an autosomal recessive disease characterized by renal cellular dysfunction due to mutations in the CTNS gene, which encodes cystinosin, a CySS lysosomal transporter. To analyze the mechanisms involved in cell damage in NC, we have investigated the effects of CTNS gene overexpression or inhibition on cell thiol/disulfide systems and vice versa.

Radiotherapy-induced hyperthyroidism in a cystinotic kidney transplant patient with Hodgkin lymphoma.

Hypothyroidism is a well-known complication of cystinosis. PTLD incidence in pediatric renal transplant population ranges between 1 and 4.5%.

Isolated fetal ascites secondary to persistent urogenital sinus.

Objective. To present a case of isolated ascites secondary due to urogenital abnormalities (urogenital sinus) without any other prenatal ultrasound marker. Method.

Acute oligohydramnios: antenatal expression of VURD syndrome?

Objective: Oligohydramnios (OA) is nowadays regarded as one of the best markers of renal function (RF) impairment in bladder outlet obstruction (BOO) detected in utero. As such, its onset is usually early and progressive because of decline in fetal urine production. A series of acute OA complicating pregnancies with BOO has never been reported.

Bladder after total urogenital mobilization for congenital adrenal hyperplasia and cloaca--does it behave the same?

Purpose: Followup of total urogenital mobilization for persistent urogenital sinus is well established anatomically and functionally. Nevertheless, studies comparing bladder function in different subsets of patients with urogenital sinus, such as congenital adrenal hyperplasia and cloaca, are scant.

Materials And Methods: We reviewed the records of patients with congenital adrenal hyperplasia and cloaca who underwent total urogenital mobilization and urodynamics in the last 10 years.

Long-term efficacy of percutaneous tibial nerve stimulation for different types of lower urinary tract dysfunction in children.

Purpose: We evaluated the efficacy of percutaneous tibial nerve stimulation for different types of pediatric lower urinary tract dysfunction.

Materials And Methods: A total of 14 children with idiopathic overactive bladder, 14 with dysfunctional voiding, 5 with underactive bladder, 4 with underactive valve bladder and 7 with neurogenic bladder resistant to conventional therapy underwent percutaneous tibial nerve stimulation weekly for 12 weeks. The stimulation effect was evaluated by comparing bladder diary, flowmetry and urinalysis before and after treatment.