A Case Of Thin Basement Membrane Nephropathy Not Uncommon But Remains A Disease Of Underdiagnosis: Clinico-Pathological Study Of Hematuria With Pain Abdomen In A Young Male

  • Rajesh Kumar
  • Harshita Sharma VMMC & Safdarjung Hospital
  • Amit Kumar Singh VMMC & Safdarjung Hospital
  • Alok Sharma Renal Pathology & EM | Dr. Lal PathLabs Ltd. |
  • Gian Prakash VMMC & Safdarjung Hospital
  • Saurabh Kumar VMMC & Safdarjung Hospital
Keywords: hematuria, glomerular basement membrane, thin basement membrane nephropathy

Abstract

We report a case of a 14 year old male who presented with lower abdominal pain and passing grossly red urine intermittently for 20 days, having no history of sore throat, skin lesions,blurring of vision, hearing loss and similar family history.A full serology and urology workup was negative for any abnormality. Kidney biopsy revealed uniform thin and slender appearing GBM without any other structural abnormality.Though Immunohistochemistry (IHC) and genetic analysis were not done,a diagnosis of thin basement membrane nephropathy (TBMN), a genetically benign hematuria without kidney failure progression is made. Skin biopsy histopathological examination also revealed finding of thin basement membrane This needs to be differentiated from Alport’s syndrome (AS) which has worse prognosis. Probably this is the first case reported from India with descriptive investigations and findings. Due to rarity of this disease and non-availability of laboratory facility especially for kidney biopsy examination, diagnosis is often missed or delayed at primary health care centers especially when no associated proteinuria has yet developed.

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Author Biographies

Harshita Sharma, VMMC & Safdarjung Hospital

Senior Resident, Deptt of Nephrology & Renal Transplant Medicine, VMMC & Safdarjung Hospital, New Delhi, 110029

Amit Kumar Singh, VMMC & Safdarjung Hospital

Senior Resident, Deptt of Nephrology & Renal Transplant Medicine, VMMC & Safdarjung Hospital, New Delhi, 110029

Alok Sharma, Renal Pathology & EM | Dr. Lal PathLabs Ltd. |

HOD - Renal Pathology & EM | Dr. Lal PathLabs Ltd. | National Reference Laboratory, New Delhi

Gian Prakash, VMMC & Safdarjung Hospital

MO Deptt of Nephrology & Renal Transplant Medicine, VMMC & Safdarjung Hospital, New Delhi, 110029

Saurabh Kumar, VMMC & Safdarjung Hospital

MO Deptt of Nephrology & Renal Transplant Medicine, VMMC & Safdarjung Hospital, New Delhi, 110029

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Published
2019-03-08
How to Cite
Kumar, R., Sharma, H., Singh, A. K., Sharma, A., Prakash, G., & Kumar, S. (2019). A Case Of Thin Basement Membrane Nephropathy Not Uncommon But Remains A Disease Of Underdiagnosis: Clinico-Pathological Study Of Hematuria With Pain Abdomen In A Young Male. EPH - International Journal of Medical and Health Science (ISSN: 2456 - 6063), 5(3), 01-08. Retrieved from https://ephjournal.com/index.php/mhs/article/view/1187