A 34‐year‐old African American woman with history of sickle cell trait (SCT) presented with acute onset of pain in the right hip and buttock radiating down the posterior aspect of the right leg with numbness and tingling in the right toes for 1 week. Clinical examination revealed mild weakness of the right lower extremity. Magnetic resonance imaging (MRI) of the lumbar spine demonstrated a large enhancing mass in the L5 vertebral body with extension into the epidural space and compression of the right S1 nerve root. MRI of the hip demonstrated nondis‐placed fractures of the right acetabulum and superior pubic ramus. There were multiple focal areas of increased marrow edema seen in the right ilium and the left ischium. Laboratory results revealed mild anemia at baseline. Computerized tomography (CT)–guided biopsy of the lesion on the L5 vertebra revealed a poorly differentiated carcinoma of unknown primary. Subsequent workup revealed diffuse metastasis involving cervical, thoracic, and lumbar spine, multiple pulmonary nodules, liver lesions, and multiple retroperitoneal adenopathy. The patient was evaluated for possible gynecological causes of the metastatic disease, including Pap smear, transvaginal ultrasound, and an endometrial biopsy, which were all unrevealing. The patient underwent palliative radiation therapy to the right hip area. Repeat CT of the abdomen showed a mass on the lower pole of right kidney suspicious for renal cell carcinoma. A core biopsy of the kidney mass was performed, and pathological findings were consistent with renal medullary carcinoma (RMC). Given the extent of the disease, systemic chemotherapy with cisplatin and gemcitabine was initiated.
RMC is a rare, aggressive tumor of the kidney that is seen almost exclusively in young black individuals with SCT. In 1974 Berman described 6 nephropathies associated with sickle cell disease: hematuria, papillary necrosis, nephrotic syndrome, renal infarction, inability to concentrate urine, and pyelonephritis. Later, in 1995 Davis et al. found a uniform association between RMC and black patients with SCT and dubbed RMC the “seventh sickle cell nephropathy.” The most common presenting symptoms are hematuria, flank pain, and weight loss. This cancer is usually refractory to chemotherapy and radiotherapy. Radical nephrectomy is curative in nonmetastatic disease. But metastatic disease is commonly present at the time of diagnosis, and median survival is approximately 15 weeks.
RMC should be considered in any black individual with SCT presenting with hematuria, flank pain, or signs and symptoms of an underlying malignancy. Given the large number of people with sickle cell trait and the poor prognosis of RMC, it is important that physicians be aware of the exclusive association of RMC with SCT. Awareness and early diagnosis of this tumor may play a role in improving survival.
S. Shinde ‐ none; P. Sharma ‐ none; A. Kalra ‐ none; R. Luyun ‐ none
To cite this abstract:Shinde S, Sharma P, Kalra A, Luyun R. Rare but Fatal: The Seventh Sickle Cell Nephropathy. Abstract published at Hospital Medicine 2011, May 10-13, Dallas, Texas. Abstract 393. Journal of Hospital Medicine. 2011; 6 (suppl 2). https://www.shmabstracts.com/abstract/rare-but-fatal-the-seventh-sickle-cell-nephropathy/. Accessed May 22, 2019.