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A case report of thin basement membrane nephropathy accompanied by sporadic glomerulocystic kidney disease
- Source :
- BMC Nephrology, BMC Nephrology, Vol 20, Iss 1, Pp 1-7 (2019)
- Publication Year :
- 2019
- Publisher :
- BMC, 2019.
-
Abstract
- Background Thin basement membrane nephropathy (TBMN) is a relatively common disease. Patients typically present with isolated hematuria, which has a good renal prognosis. In contrast, glomerulocystic kidney disease (GCKD) is a rare disease, associated with slow progressive renal dysfunction. To our knowledge, co-occurring diagnosis of TBMN with GCKD has not been reported previously. Case presentation A 30-year old woman was admitted to our hospital for evaluation of hematuria and renal insufficiency. Upon examination, her urinary protein level was 40 mg/day and occult blood in her urine was 2+. The patient’s urinary dysmorphic red blood cell sediment was 30–49/high power field. In contrast, her serum creatinine levels increased from 0.57 mg/dl to 0.86 mg/dl during the previous 2-years, without special events. She suffered from far-sightedness and astigmatism beginning at birth; She had no family history of renal disease. Renal biopsy demonstrated cystic dilatation of the Bowman’s capsule and atrophy of the glomerular tuft. The glomerular basement membrane (GBM) was thin, with an average thickness of 191 nm. Next-generation sequencing was used to evaluate for mutations in COL4A3 and COL4A4, associated with TBMN, and UMOD, MUC1, and SEC61A1, associated with hereditary GCKD. No pathogenic mutations were identified. We thus diagnosed the patient with TBMN coexistent with sporadic GCKD. Conclusion We report the patient diagnosed with TBMN accompanied by sporadic GCKD, based on renal biopsy and genetic testing. Because it is possible that other diseases, such as GCKD, can coexist with TBMN, it is important to consider renal biopsy.
- Subjects :
- Adult
Nephrology
medicine.medical_specialty
Pathology
Genetic testing
Urinary system
030232 urology & nephrology
030204 cardiovascular system & hematology
lcsh:RC870-923
urologic and male genital diseases
Nephropathy
03 medical and health sciences
chemistry.chemical_compound
0302 clinical medicine
Atrophy
Internal medicine
Glomerulocystic kidney disease
Glomerular Basement Membrane
Case report
medicine
Humans
Thin basement membrane nephropathy
Creatinine
medicine.diagnostic_test
business.industry
Glomerular basement membrane
Kidney Diseases, Cystic
lcsh:Diseases of the genitourinary system. Urology
medicine.disease
medicine.anatomical_structure
chemistry
Female
Renal biopsy
business
Rare disease
Subjects
Details
- Language :
- English
- ISSN :
- 14712369
- Volume :
- 20
- Database :
- OpenAIRE
- Journal :
- BMC Nephrology
- Accession number :
- edsair.doi.dedup.....9c6e688e2376d948333d200c9ff9d4a7