ABSTRACT
Schimke immune-osseous dysplasia (SIOD) is a rare autosomal recessive disorder characterized by spondylo-epiphyseal dysplasia (SED), progressive renal insufficiency beginning as steroid-resistant nephrotic syndrome (SRNS) and defective cellular immunity. This article reports a case from Egypt with a mild form of SIOD. A 14.5-year-old male patient presented with disproportionate short stature, SRNS (focal and segmental glomerulosclerosis), laboratory evidence of cellular immune deficiency and radiologic characteristics of SED. He died at the age of 16.5 years with bone marrow failure and severe pneumonia. To the best of our knowledge, this is the first case of SIOD to be reported from Egypt.
Subject(s)
Arteriosclerosis , Immunologic Deficiency Syndromes , Nephrotic Syndrome , Osteochondrodysplasias , Pulmonary Embolism , Adolescent , Arteriosclerosis/diagnosis , Arteriosclerosis/genetics , Arteriosclerosis/therapy , Disease Progression , Egypt , Fatal Outcome , Humans , Immunologic Deficiency Syndromes/diagnosis , Immunologic Deficiency Syndromes/genetics , Immunologic Deficiency Syndromes/therapy , Male , Nephrotic Syndrome/diagnosis , Nephrotic Syndrome/genetics , Nephrotic Syndrome/therapy , Osteochondrodysplasias/diagnosis , Osteochondrodysplasias/genetics , Osteochondrodysplasias/therapy , Primary Immunodeficiency Diseases , Pulmonary Embolism/diagnosis , Pulmonary Embolism/genetics , Pulmonary Embolism/therapy , Time FactorsABSTRACT
This study retrospectively investigates the indications and results of renal biopsy in children to determine the patterns of childhood kidney disease in a single tertiary children's hospital in Egypt. We included all the patients who underwent ultrasound-guided renal biopsy from 1998 to 2012. All the kidney biopsies were studied under light microscopy, while immunofluorescence and electron microscopy were performed when indicated. A total of 1246 renal biopsies were performed over 15 years, on 1096 patients. The mean age of the patients at the time of biopsy was 9.2±3.7 years. The main indication for a biopsy was the steroid-resistant nephrotic syndrome (n=354, 28.4%), followed by the atypical nephrotic syndrome (n=250, 20.1%), and renal abnormalities in the systemic diseases (n=228, 18.3 %). In the 1226 pathologically diagnosed specimens, primary glomerulonephritis was the most common finding (n=826, 67.4%), followed by secondary glomerulonephritis (n=238, 19.4%). The most common causes of primary glomerulonephritis were Minimal Change Disease (MCD) (n=267, 21.8%), diffuse proliferative glomerulonephritis (n=188, 15. 3%), and focal proliferative glomerulonephritis (n=164, 13.3%). Lupus nephritis (n=209, 17%) was the most common cause of secondary glomerulonephritis. We conclude that the steroid-resistant nephrotic syndrome was the most frequent indication for biopsy and minimal change disease was the most common histopathological finding in our population.
Subject(s)
Biopsy , Kidney Diseases/diagnosis , Kidney/pathology , Adolescent , Age Factors , Child , Child, Preschool , Egypt/epidemiology , Female , Fluorescent Antibody Technique , Hospitals, Pediatric , Humans , Infant , Kidney/ultrastructure , Kidney Diseases/epidemiology , Kidney Diseases/pathology , Male , Microscopy, Electron , Microscopy, Fluorescence , Nephrosis, Lipoid/diagnosis , Nephrosis, Lipoid/pathology , Nephrotic Syndrome/congenital , Nephrotic Syndrome/diagnosis , Nephrotic Syndrome/pathology , Predictive Value of Tests , Retrospective Studies , Tertiary Care CentersABSTRACT
BACKGROUND: Primary nephrotic syndrome (PNS) in children is a common problem worldwide. The pathological pattern of PNS differs between countries. However, data on the pathological pattern of PNS in Egyptian children are scant. This study was conducted to determine indications and results of renal biopsy in Egyptian children with PNS from a single tertiary children's hospital. METHODS: Medical records of all children with PNS aged 3 months-18 years who underwent renal biopsy from 1998 to 2012 at Mansoura University Children's Hospital were retrospectively reviewed. RESULTS: A total of 741 patients (441 males, 300 females) underwent 798 biopsies of which only four specimens were insufficient. Mean age at time of biopsy was 7.4 ± 3.6 years. The main indication for biopsy was steroid resistance (n = 354, 44.4%) followed by atypical PNS (n = 234, 29.3%) of which gross hematuria was the most common cause. Minimal change disease (MCD) and its variants were the most frequent pathology (n = 431, 54.3%) irrespective of biopsy indication, and incidence of focal segmental glomerulosclerosis was observed to be increasing over the years. CONCLUSION: This is the first large study on the pathological pattern of PNS in children from Egypt, and it shows that MCD is the most frequent underlying pathology and steroid resistance is the most frequent indication for biopsy.
