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Saudi Journal of Kidney Diseases and Transplantation
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CASE REPORT  
Year : 2014  |  Volume : 25  |  Issue : 1  |  Page : 126-129
Multiple cysts in kidneys: A case report


1 Department of Endocrinology, Medwin Hospitals, Nampally, Hyderabad, A.P., India
2 Department of Nephrology, Medwin Hospitals, Nampally, Hyderabad, A.P., India

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Date of Web Publication7-Jan-2014
 

   Abstract 

Von Hippel-Lindau (VHL) disease, which is an autosomal dominant inherited disease, is characterized by highly vascularized tumors in different organs. We report a 42-year-old male who presented to our hospital with diarrhea and weight loss of six months' duration. Ultrasonography of the abdomen revealed bilateral polycystic kidneys with multiple cystic and solid com­ponents as well as polycystic pancreas. A computerized tomography scan of the abdomen revealed bilateral multiple simple and complex renal cysts, cystic lesions in the head and body of the pancreas and a non-enhancing lesion in the left adrenal gland. The features raised the possibility of VHL syndrome and a biopsy of the kidney revealed atypical cells with a suspicion of malignancy. He underwent bilateral nephrectomy and is on maintenance dialysis since then.

How to cite this article:
Kumar KH, Jha R, Shekhar S, Sunil K, Modi K D. Multiple cysts in kidneys: A case report. Saudi J Kidney Dis Transpl 2014;25:126-9

How to cite this URL:
Kumar KH, Jha R, Shekhar S, Sunil K, Modi K D. Multiple cysts in kidneys: A case report. Saudi J Kidney Dis Transpl [serial online] 2014 [cited 2019 Nov 11];25:126-9. Available from: http://www.sjkdt.org/text.asp?2014/25/1/126/124528

   Introduction Top


Von Hippel-Lindau (VHL) disease, which is an autosomal dominant inherited disease, is characterized by highly vascularized tumors in different organs. The disease has an estimated prevalence of two to three patients per 100,000 persons. We recently encountered an interesting patient with this disease who presented with chronic diarrhea.


   Case Report Top


A 42-year-old male patient presented to our hospital with diarrhea and weight loss of six months' duration. Diarrhea was of a small quan­tity, foul smelling and used to float in the pan, suggesting steatorrhea. He denied a history of pain abdomen and fever during this illness. The patient claimed that he lost about 10-12 kg of weight over the last six months and had poor appetite. Past medical history revealed that the patient was detected to have a spinal tumor about ten years earlier. He underwent surgery for the same and was followed-up with radio­therapy. He was also detected to have diabetes mellitus one year prior to the current presen­tation, and was on oral hypoglycemic agents along with insulin. He denied any similar complaints in the family and the remaining part of the medical history was not contributory.

Examination revealed a thin-built emaciated individual with a body mass index of 19 kg/m 2 and blood pressure of 116/70 mm Hg with no postural fall. Abdominal examination revealed a palpable, non-tender liver and the renal angles were full with palpable kidneys. There was an old, well-healed scar over the spine indicating past spinal surgery. There was no evidence of any neurological deficit and ocular fundi were normal. The other aspects of the clinical exami­nation were normal.

The patient's hematological parameters were normal, with fasting blood glucose of 157 mg/dL and normal liver/kidney function tests. Urine examination was normal with no presence of protein or casts. Stool examination showed pre­sence of fat globules suggestive of steatorrhea. Ultrasonography of the abdomen revealed bila­teral polycystic kidneys with multiple cystic and solid components as well as polycystic pan­creas. Computerized tomography (CT) scan of the abdomen revealed bilateral multiple simple and complex renal cysts, cystic lesions in the head and body of the pancreas and a non-enhancing lesion in the left adrenal gland [Figure 1]. The features raised the possibility of VHL syndrome and the patient was investigated further. CT scan of the brain showed a cystic lesion with enhancing mural nodule in the cere­bellum, suggestive of cerebellar hemangioblastoma [Figure 2]. Endoscopic trans-duodenal biopsy of the kidney was performed, which re­vealed atypical cells suggestive of malignancy. There was no evidence of pheochromocytoma on urine metanephrine analysis and the ophthal­mic examination was normal. He underwent bilateral nephrectomy and is currently on regu­lar maintenance hemodialysis. Histopathological examination of the kidney confirmed the presence of renal cell carcinoma (RCC) of the clear cell type.
Figure 1: Computerized tomography scan of the abdomen showing multiple cysts in the pancreas, left adrenal gland and both kidneys.

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Figure 2: Computerized tomography of the brain showing cerebellar hemangioblastoma with mural nodule.

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   Discussion Top


VHL is an inherited, autosomal dominant syn­drome and is associated with a variety of be­nign and malignant tumors. The age at diag­nosis is between the second and fourth decades of life; the VHL gene abnormality is seen in one in 36,000 newborns. The spectrum of tumors in VHL is hemangioblastomas, retinal angiomas, clear cell RCCs, pheochromocytoma, endolymphatic sac tumors of the middle ear, serous cystadenomas and neuro-endocrine tu­mors of the pancreas and papillary cystadenomas of the epididymis and broad ligament. [1]

Chronic diarrhea in our patient could be due to secreted peptides from the pancreatic cyst and pancreatic insufficiency. [2] Our patient did not have any neurological symptoms, perhaps due to the site of location of the cyst as well as a long history and asymptomatic nature of the illness.

The VHL gene is located on chromosome 3p25 and its gene product, pVHL, functions as a tumor suppressor protein. Tumor genesis is explained by gene mutation, a "two-hit" model, wherein the initial germline mutation inacti­vates one copy of the VHL gene in all cells and, secondly, there is loss of expression of the second, normal allele, through either somatic mutation or deletion of the second allele, or through hypermethylation of its promoter. pVHL targets several proteins for proteasomal degradation, thereby regulating their levels within the cell and forms a stable complex with several other proteins. Once bound to the pVHL complex, the target molecules undergo degrada­tion by proteasomes. Hypoxia-inducible factor-1 (HIF-1) is one of the major proteins regulated by pVHL and is involved in erythropoiesis. [5] HIF-1 is composed of α- and β-subunits, and the α-subunit is sensitive to oxygen levels and is a substrate for the pVHL protein complex. Other factors known to be regulated through the HIF-1 alfa system are vascular endothelial growth factor, platelet-derived growth factor-beta and transforming growth factor-alfa. Other factors potentially involved in tumor genesis that are not regulated through the HIF-1 alfa system are matrix metalloproteinases (MMP) such as MMP1, MMP inhibitors and atypical protein kinase C.

VHL is classified into various types based on the tumor spectrum involved in the patient. [6] Our patient had features typical of type 1, with involvement of the central nervous system in the form of hemangioblastoma, RCC and pan­creatic neoplasm and cysts, without evidence of pheochromocytoma. Type 2 has predominantly pheochromoocytoma and low risk of RCC.

The follow-up of patients with VHL includes annual examination of plasma catecholamines and abdominal CT with contrast for pheochromocytoma, retinal examination including dila­tion of the pupils for retinal angiomas, magnetic resonance imaging of the brain and spine with gadolinium for hemangioblastoma and baseline ear examination including audiometry. [7] Diffe­rentiation of VHL with ADPKD is sometimes difficult and the clinical clues are given in [Table 1].
Table 1: Differentiation between Von Hippel–Lindau syndrome and autosomal dominant polycystic kidney disease.

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To conclude, we report an interesting case of type 1 VHL disease with classical involvement of multiple organs and posing a diagnostic dilemma of multiple cysts in the kidney.

 
   References Top

1.Lonser RR, Glenn GM, Walther M, et al. von Hippel-Lindau disease. Lancet 2003;361:2059-67.  Back to cited text no. 1
[PUBMED]    
2.Blansfield JA, Choyke L, Morita SY, et al. Clinical, genetic and radiographic analysis of 108 patients with von-Hippel-Lindau disease (VHL) manifested by pancreatic neuroendocrine neoplasms (PNETs). Surgery 2007;142:814-8.  Back to cited text no. 2
[PUBMED]    
3.Wanebo JE, Lonser RR, Glenn GM, Oldfield EH. The natural history of hemangioblasts of the central nervous system in patients with von Hippel Lindau disease. J Neurosurg 2003;98:82-94.  Back to cited text no. 3
[PUBMED]    
4.Kim WY, Kaelin WG. Role of VHL gene mutation in human cancer. J Clin Oncol 2004;22:4991-5004.  Back to cited text no. 4
[PUBMED]    
5.Carmeliet P, Dor Y, Herbert JM, et al. Role of HIF-1alpha in hypoxia-mediated apoptosis, cell proliferation and tumor angiogenesis. Nature 1998;394:485-90.   Back to cited text no. 5
[PUBMED]    
6.Maher ER, Kaelin WG Jr. von Hippel-Lindau disease. Medicine (Baltimore) 1997;76:381-91.  Back to cited text no. 6
[PUBMED]    
7.Hes FJ, van der Luijt RB, Lips CJ. Clinical management of Von Hippel-Lindau (VHL) disease. Neth J Med 2001;59:225-34.  Back to cited text no. 7
[PUBMED]    

Top
Correspondence Address:
K. V. S. Hari Kumar
Department of Endocrinology, Command Hospital, Chandimandir 134107
India
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DOI: 10.4103/1319-2442.124528

PMID: 24434396

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    Figures

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    Tables

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