ABSTRACT
BACKGROUND: Low birthweight infants have a reduced number of nephrons and are at high risk of chronic kidney disease. Preterm birth and/or intrauterine growth restriction (IUGR) may also affect peritubular capillary development, as has been shown in other organs. CASE-DIAGNOSIS/TREATMENT: We report two patients with a history of preterm birth and extremely low birthweight who showed polycythemia and renal capillary rarefaction. Patient 1 and 2, born at 25 weeks of gestation with a birthweight of 728 and 466 g, showed mild proteinuria at age 8 and 6 years, respectively. In addition to increasing proteinuria, hemoglobin levels became elevated towards adolescence and their serum erythropoietin (EPO) was high despite polycythemia. Light microscopic examination of renal biopsy specimens showed glomerular hypertrophy, focal segmental glomerulosclerosis, and only mild tubulointerstitial fibrosis. A decrease in the immunohistochemical staining of CD31 and CD34 endothelial cells in renal biopsy specimens was consistent with peritubular capillary rarefaction. CONCLUSIONS: Since kidney function was almost normal and fibrosis was not severe, we consider that the capillary rarefaction and polycythemia associated with elevated EPO levels were largely attributable to preterm birth and/or IUGR.
Subject(s)
Glomerulosclerosis, Focal Segmental/pathology , Infant, Premature, Diseases/pathology , Kidney Glomerulus/pathology , Kidney Tubules/pathology , Microvascular Rarefaction/pathology , Nephrons/pathology , Polycythemia/pathology , Premature Birth/pathology , Adolescent , Angiotensin II Type 1 Receptor Blockers/therapeutic use , Antigens, CD34 , Apgar Score , Biopsy , Child , Endothelial Cells/metabolism , Erythropoietin/blood , Female , Fibrosis , Glomerulosclerosis, Focal Segmental/diagnosis , Glomerulosclerosis, Focal Segmental/therapy , Glomerulosclerosis, Focal Segmental/urine , Hemoglobins/analysis , Humans , Infant, Extremely Premature , Infant, Newborn , Infant, Premature, Diseases/diagnosis , Infant, Premature, Diseases/therapy , Infant, Premature, Diseases/urine , Infant, Very Low Birth Weight , Male , Microvascular Rarefaction/blood , Microvascular Rarefaction/diagnosis , Microvascular Rarefaction/therapy , Platelet Endothelial Cell Adhesion Molecule-1/metabolism , Polycythemia/blood , Polycythemia/diagnosis , Polycythemia/urine , Pregnancy , Proteinuria/urine , Valsartan/therapeutic useABSTRACT
PURPOSE: Neutrophil-specific granule deficiency (SGD) is a rare, congenital disorder characterized by atypical neutrophil structure and function that results in frequent and severe bacterial infections. However, the clinical course of patients with SGD have not been described in detail because of the scarcity of the disease. We present the clinical course of an adult patient with SGD and propose a method for making an early diagnosis of SGD. PATIENT AND METHODS: A32-year-old Japanese woman with SGD had a small impetigo lesion on her face and experienced the rapid spread of a facial abscess to a pulmonary abscess via the blood stream. We also analyzed the expression of neutrophil granule proteins in our patient compared with a healthy control by flow cytometry. RESULTS: We confirmed defects of several neutrophil granule proteins in our patient by flow cytometry. CONCLUSION: Severe bacterial infections sometimes occur and spread rapidly in SGD. Detection of neutrophil granules by flow cytometry is useful for a rapid diagnosis and a screening of SGD.
Subject(s)
Immunologic Deficiency Syndromes/diagnosis , Impetigo/diagnosis , Lung Abscess/diagnosis , Neutrophils/metabolism , Secretory Vesicles/metabolism , Acute-Phase Proteins/metabolism , Adult , Antibiotic Prophylaxis , Antimicrobial Cationic Peptides/metabolism , Blood Proteins/metabolism , CCAAT-Enhancer-Binding Proteins/genetics , Debridement , Defensins/metabolism , Female , Flow Cytometry , Humans , Immunologic Deficiency Syndromes/genetics , Immunologic Deficiency Syndromes/therapy , Impetigo/genetics , Impetigo/therapy , Japan , Lactoferrin/metabolism , Lipocalin-2 , Lipocalins/metabolism , Lung Abscess/genetics , Lung Abscess/therapy , Mutation/genetics , Neutrophils/pathology , Peroxidase/metabolism , Proto-Oncogene Proteins/metabolism , CathelicidinsABSTRACT
We describe 3 Japanese patients in 2 families with familial Mediterranean fever (FMF) as determined by gene analysis. FMF is an ethnically related, genetic disease, occurring commonly in some Mediterranean populations. The FMF gene (MEFV) mutation found in our patients is M694I. The patients may be remote from East Asian extraction.