Dent Disease Type 2 as a Cause of Focal Segmental Glomerulosclerosis in a 6-Year-Old Boy: A Case Report.

Dent disease is an X-linked recessive renal tubular disorder characterized by proximal tubule dysfunction. Typical features include low molecular weight proteinuria, hypercalciuria, nephrocalcinosis, nephrolithiasis, rickets, and chronic renal failure. We present a case of a 6-year-old boy with nephrotic proteinuria without hypoalbuminemia or edema. His renal biopsy revealed focal segmental glomerulosclerosis (FSGS), some of the glomeruli were globally sclerotic. Hypercalciuria was present intermittently and urine protein electrophoresis showed low molecular weight protein fraction of 50%. The next generation sequencing identified pathogenic variant in OCRL gene causing Dent disease type 2. We report an uncommon histologic finding of FSGS in Dent disease type 2 and highlight the importance of protein content examination and genetic analysis for the proper diagnosis in these complicated cases.

Novel Heterozygous Mutations of Congenital Thrombotic Thrombocytopenic Purpura: A Rare Case Report.

Hereditary thrombotic thrombocytopenic purpura (TTP) is a genetic condition caused by mutations in ADAMTS13 gene, leading to very low levels of ADAMTS13 (a disintegrin and metalloprotease with thrombospondin type I domain 13) activity. It is a rare condition associated with multiple reported mutations. Here, we describe a case of hereditary TTP with a compound novel heterozygous mutation along with secondary focal segmental glomerulosclerosis. The patient responded clinically to plasma infusions with resolution of thrombocytopenia, stabilization of renal function, and control of blood pressures. Genetic analysis of the entire family helped in the characterization of the inheritance of this mutation. Our case illustrates the need for focused genetic analysis in a subset of patients presenting with features of TTP to decide the therapeutic plan and manage accordingly.

Glomérulo esclerosis focal y segmentaria. Trasplante renal y plasmaféresis / Focal segmental glomerulo sclerosis renal transplant and plasmapheresis

La Glomérulo Esclerosis Focal y Segmentaria (GEFS) primaria es una entidad que se define histológicamente por el depósito de material hialino en los glomérulos renales. Su origen permanece aún desconocido y es una de las causas más importantes del Síndrome Nefrótico (SN) Corticorresistente. La GEFS es la causa diagnostica de base del 8,3 por ciento de los casos de Insuficiencia Renal Crónica (lRC), del 14 por ciento de pacientes en plan de diálisis y del 13,5 por ciento de los receptores de Trasplante Renal. Además, luego del trasplante renal, esta enfermedad tiene una tasa elevada de recaída sobre el injerto. Sobre la fisiopatología de esta enfermedad, las últimas líneas teóricas hacen hincapié en la función de los podocitos, estos datos surgieron del conocimiento de alteraciones genéticas que implican a estas células. La hipótesis de que un "factor plasmático circulante" aumenta la permeabilidad de los glomérulos a la albumina está apoyada en numerosos estudios clínicos y experimentales. Esta es la base fisiopatológica del tratamiento donde se encuentra ubicada como uno de los pilares la Plasmaféresis, acompañando a las nuevas modalidades de Inmunosupresión. Esta revisión está focalizada en los mecanismos fisiopatológicos involucrados en esta enfermedad y a describir las terapéuticas utilizadas en su tratamiento.

Primary focal segmental glomerulosclerosis (FSGS) is an entity defined in histological terms by the hyaline material depot that is found in renal glomerulus. Its origin still remains unknown and it's one of the most important causes of corticosteroid-resistant nephrotic syndrome. FSGS is the main diagnostic cause of: 8.3 per cent of chronic renal failure (CRF) cases, 14 per cent of dialysis patients and 13.5 per cent of people receiving a kidney transplant. Besides, after the renal transplantation, this disease has a high rate relapse over the graft. Concerning the pathophysiology of FSGS, the latest theoretical research emphasizes on the podocytes function. These data came out from the knowledge of the genetic disorder that these cells implicate. The hypothesis that a "plasmatic circulating factor" increases the permeability of the glomerulus for albumin is supported by both several clinical and experimental research. The plasmatic circulating factor is the pathophysiological base for the treatment whit plasmapheresis along whit immunosuppression procedures. This present revision is focused on the pathophysiological mechanisms involved in, and des­cribes the therapies used on its treatment.

Implication of Angiotensin Converting Enzyme Gene Polymorphism on Renal Progression of Primary Nephrotic Syndrome in Children / 대한신장학회잡지

Human angiotensin converting enzymcC4CE) gene displays an insertion/deletion polymorphism in 16 intron, and three genotypes are determined by presence or absence of a 287-bp fragment of DNA; II, ID and DD genotype. DD genotype has been suggested as a risk factor of various cardiovascular diseases and chronic nephropathies such as IgA nephropathy and diabetic nephropathy. This study was designed to investigate if the ACE polymor-phism is related to the clinical and pathologic findings of minimal change nephrotic syndrome(MCNS) and focal segmental glomerulosclerosis(FSGS) in children. Ninety children with primary nephrotic syndrome(MCNS and steroid responsive nephrotic syndrome : 68 cases, FSGS; 22 cases) and 97 healthy normal controls were examined. The genotype for the polymorphism was determined by PCR method. The distribution of ACE genotypes in primary nephrotic syndrome(II 28.6%, ID 53.8%, DD 17.6%) was not different from that in controls(II 39.2%, ID 41.2%, DD 29.6%). The IJ genotype was more frequent in FSGS(II 64.7%, ID 23.5%, I)D 11.8%) than in MCNS and steroid responsive nephrotic syndrome(I 20.3%, ID 60.8%, DD 18.9%, p<0.03). The ACE genotypes were not associated either with frequency of relapse in MCNS or steroid responsive nephrotic syndrome or with presence of hypertension, responsiveness to steroid therapy and progression of renal dysfunction in FSGS. We concluded that deletion polymorphism of ACE gene is not associated with increased risk for renal progression in children with primary nephrotic syndrome.