Thin Glomerular Basement Membrane Disease with Herlyn-Werner-Wunderlich Syndrome: Uterus Didelphys, Blind Hemivagina and Ipsilateral Renal Agenesis

Herlyn-Werner-Wunderlich syndrome(HWWs) is a rare variant of Mullerian ductal anomalies characterized by the presence of a hemivaginal septum, a didelphic uterus, and ipsilateral renal agenesis. It usually presents after menarche with progressive pelvic pain, and palpable mass due to hemihematocolpos. If a cystic mass is detected behind the urinary bladder in children, in association with the absence of a kidney, the diagnosis of uterus didelphys with imperforate vagina and hydrocolpos should be considered. When renal agenesis is found in asymptomatic children, the small size and the tubular shape of the uterus makes it almost impossible to evaluate uterine anomalies, so follow-up should be performed until the end of puberty. Appropriate preoperative diagnosis and treatment will prevent unnecessary procedures and offer relief of symptoms. We report one case of didelphic uterus with blind hemivagina and ipsilateral renal agenesis with biopsy-proven thin glomerular basement membrane disease which is not related to the above syndrome.

A Histological and Clinical Study of the Children with Thin Glomerular Basement Membrane

PURPOSE: Thin glomerular basement membrane disease(TGBMD) is found in patients with family history of hematuria. TGBMD is autosomal dominant and is known to be one of the commonest causes of asymptomatic hematuria. This study was conducted to evaluate the histological and clinical features of patients with TGBMD. METHODS: 150 cases diagnosed with TGBMD by renal biopsy while admitted in the department of pediatrics, Kyungpook National University Hospital between January 1999 and December 2003 comprised the study group. The following parameters were retrospectively analyzed:age of onset, hematuria pattern, existence of proteinuria, process of diagnosis, laboratory findings, thickness and character of basement membrane and family history. RESULTS: The mean age at the time of diagnosis was 7.9 years. The male to female ratio was 65:77. 94 patients or 66% visited the hospital with a chief complaint of persistent microscopic hematuria. Gross hematuria accounted for 13 cases or 9%. 78 cases(55%) were found to have hematuria for the first time from a routine school urinalysis screening. The renal biopsy showed the thickness of basement membrane to be 186+/-36 nm. Focal lamellation of the basement membrane was found in eight cases. In the family history, hematuria was shown in 10 cases on the paternal side, 13 on the maternal side and none on both sides. In seven cases, hematuria was shown among siblings. No significant differences were found among the laboratory test results which were conducted at an average interval of fifteen months. CONCLUSION: TGBMD is one of the major causes of asymptomatic hematuria in children, which was diagnosed in increasing numbers since school urinary mass screening test started in 1998. In cases with familial progressive renal disease or focal duplication in the basement membrane Alport syndrome should be considered.

A Comparative Analysis of the Clinical and Pathological Features of IgA Nephropathy and Thin Glomerular Basement Membrane Disease

PURPOSE: IgA nephropathy(IgAN) and thin glomerular basement membrane disease(TGBMD) are common glomerular diseases that cause hematuria in childhood. IgAN has characteristics of IgA deposit as the sole or predominantly localized to the mesangium. Recently, it has been reported that thinning of glomerular basement membrane(GBM) is commonly accompanied with precipitation of electron dense deposits in IgAN. We performed this study to examine the frequency of thinning of GBM among children with IgAN and to analysis the correlation between urinary abnormalities and GBM thickness, and furthermore to conduct comparative analysis of the clinical and pathological features of IgAN and TGBMD. METHODS: This study summarizes data collected from Department of Pediatrics, Busan Paik Hospital, Inje Medical College. Data include 51 cases who were diagnosed as IgAN from 1995 to 2000, and 26 cases who were diagnosed as TGBMD from 1990 to 2000 by percutaneous renal biopsy. RESULTS: Males accounted for 29/51(56.9%) patients with IgAN and 8/26(30.8%) of those with TGBMD. The clinical and laboratory features between IgAN and TGBMD were significantly different regarding the incidence of proteinuria(IgAN vs TGBMD: 43.1% vs 3.8%, P=0.001), the incidence of co-appearance of proteinuria with hematuria (41.2% vs 3.8%, P=0.001), total amount of protein in 24 hours collected urine (808+/-188.5 mg vs 251+/-00.7 mg, P=0.001) and the incidence of proteinuria more than 1 gm in 24 hours collected urine (23.5% vs 3.8%, P=0.01). On the contrary, there were no significant differences in the levels of serum albumin, creatinine, BUN, and Ccr between two groups. The mean thickness of GBM in patients with IgAN was293.0+/-9.2 nm(139.7-461.9 nm) and 180.9+/-5.8 nm (110.5-229.5 nm) in patients with TGBMD. The mean GBM thickness revealed significantly thinner in TGBMD compared than those with IgAN (P=0.0001). The frequency of thickness being less than 250 nm was 37.4 +/-34.4% in IgAN and 93.0 +/-7.0% in TGBMD (P=0.0001). But there were no correlations between urinary abnormalities and GBM thickness in patients with IgAN. CONCLUSION: The thinning of GBM would be one of the common pathological findings in IgAN. Moreover, there is no significant correlations between urinary abnormalities and GBM thickness in patients with IgAN. However, patients with IgAN tend to have significantly higher possibilities of proteinuria, co-appearance of proteinuria with hematuria and higher total amount of protein in 24 hours collected urine compared those with TGBMD. These differences might be play an important role as progressive prognostic indicators in patients with IgAN.

Clinical and Pathologic Analysis of Thin Glomerular Basement Membrane Disease in Children

PURPOSE : Clinical manifestations and pathologic findings of thin glomerular basement membrane disease, recognized as a common underlying disease of benign, familiar and asymptomatic hematuria has not been reported systemically in Korea. We analyzed clinical and pathologic findings of patients who were diagnosed as thin glomerular basement membrane disease. METHODS : We analyzed clinical and pathologic findings of twenty-six patients who were diagnosed as thin glomerular basement membrane disease by renal biopsy among who complained asymptomatic hematuria from 1990 to 2000. RESULTS : The subjects were aged 9.4+/-3.2 (3.0-15.8) years-old at onset of hematuria, and 11.1+/-2.2 (4.7-16.3) years-old at renal biopsy. Sexual discrepancy was more common in girls (eight boys and eighteen girls). A family history of hematuria was found in 8 patients(30.7%). Major clinical manifestation on admission was microscopic hematuria according to the findings of 3cases(11.5%) of gross hematuria, 23cases(88.5%9) of microscopic hematuria, and 1case(3.8%) of proteinuria. Microscopic hematuria persisted in all cases. Kidney biopsy showed few changes by light microscopy, but IgM, C3 and fibrinogen deposit in mesangium was found by immunofluorescent microscopy in a few cases. Electron microscopic findings have revealed thinning of the glomerular basement membrane varied from 180.9+/-35.8nm. CONCLUSION : Thin glomerular basement membrane disease might be a common cause of microscopic hematuria of children and family history was revealed in about 30%. Clinical progression was good in majorities.

A Case of Wegener's Granulomatosis with Thin Glomerular Basement Membrane Disease / 대한류마티스학회지

Wegener's granulomatosis is a necrotizing,granulomatous vasculitis that involves multiple organs including the upper and lower respiratory tract and the kidney.The kidney initially exhibits focal necrotizing glomerulonephritis,which progresses to crescentic glomerulonephritis in Wegener's granulomatosis.We experienced a case of Wegener's granulmatosis which was associated with a thin glomerular basement membrane disease.The patient suffered from nasal stuffiness,recurrent serous otitis media,and tinnitus.Despite antibiotic therapy and ventral tube insertion,symptoms did not improve and hearing difficulty was aggravated.Ulcerative,necrotizing granulomatous inflammations with multinucleated giant cells were seen on nasal biopsy.She had recurrent microscopic hematuria and the renal biopsy findings by light and immunofluorescent microscopy did not reveal any abnormalities but diffuse thinning of the glomerular basement membrane (226nm)was observed by electronmicroscopy. With the above clinical findings and biopsy results,we diagnosed Wegener's granulmatosis with thin glomerular basement membrane disease.Thin glomerular basement membrane disease,also called benign recurrent hematuria,is characterized by diffuse thinning of the glomerular basement membrane and hematuria. Weekly low-dose methotrexate together with prednisone was used as treatment regimen because nonglomerular microscopic hematuria may be the first sign of cyclophosphamide-induced renal toxicity.With the above combination therapy, she felt well-being sense and her hearing difficulty was also much improved. She has been treated as an outpatient with glucocorticoid.