Clinical problems in hemodialysis patients with autosomal dominant polycystic kidney disease

Autosomal dominant polycystic kidney disease (ADPKD ) is a common monogenic disease characterized by massive enlargement of fluid‐filled cysts in the kidney. Due to its genetic pattern, the disease differs from other CKD. ADPKD is a multi‐system, progressive disorder which is frequently complicated with hypertension, cardiovascular events and cerebrovascular disease. Thus, there are many clinical problems specific to ADPKD . In this article, we reviewed these clinical problems and their management in ADPKD with hemodialysis patients.     

Massive growth of kidneys in patients with autosomal dominant polycystic kidney disease treated with chronic hemodialysis

Three patients with autosomal dominant polycystic kidney disease in whom kidneys enlarged enormously during treatment with chronic hemodialysis for terminal uremia are reported. In all cases, nephrectomies were performed for the relief of symptoms caused by the large kidneys.     

Abdominal aortic aneurysm and autosomal dominant polycystic kidney disease

AIM: The aim of this study was to report a series of patients with autosomal dominant polycystic kidney disease operated for abdominal aortic aneurysm. PATIENTS AND METHODS: From 1986 to 1999, seven patients with this pathologic association were operated for aneurysm by the same surgeon. All were males, 47 to 69 years old (mean: 57.7). All were hypertensive and heavy smokers. Four were treated by hemodialysis. In five patients, the aneurysm was an incidental discovery, while two patients presented signs of obstructive arterial disease of the lower limbs. Ultrasound was the routine screening investigation, completed by aortography in all patients and by computed tomography in 2 patients. Surgical treatment consisted of intrasaccular repair of the aneurysm with a straight aortic tube (n = 5), a bifurcated prosthesis from the aorta to both common iliac arteries (n = 1) and a bifurcated prosthesis from the aorta to both common femoral arteries (n = 1). RESULTS: There was no postoperative mortality or morbidity. Two late deaths (at 5 and 8 years) occurred from myocardial infarction. Only one patient subsequently received a kidney transplant. Repairs were verified by postoperative angiography: anatomical results were satisfactory in all patients. Only nine similar cases have been published in the literature, including two deaths from ruptured aneurysm. CONCLUSIONS: The clinical diagnosis of aortic aneurysm is difficult in patients with polycystic kidneys due to renal volume. Ultrasound scan of the aorta is recommended to screen these patients for aneurysm. The data of our series show that the main cause of aortic aneurysms is atheroma and that a pathogenic link between this lesion and polycystic kidney disease is questionable. Elective aortic repair is recommended in order to avoid rupture of the aneurysm.     

Management of end-stage autosomal dominant polycystic kidney disease with hemodialysis and transplantation

This is an analysis of the outcome of 35 patients with end-stage autosomal dominant polycystic kidney disease (ADPKD) at Toronto Western Hospital (TWH) during a 10-year period. The primary treatment in each case was hemodialysis. In the 15 patients managed exclusively with hemodialysis the one- and five-year actuarial survival was 93% and 77% respectively. Twenty patients ultimately received a total of 26 cadaveric renal allografts. Graft survival at one year was 76%. One- and five-year patient survival was 92% and 73% respectively. Beyond 5 years a trend towards increased survival in the transplant group was seen, compared with the exclusively hemodialyzed group. Bilateral nephrectomy prior to transplantation was associated with high morbidity and mortality, and did not change either graft or patient survival. In view of the similar survival and because it is accepted that transplantation offers the highest quality of life amongst the modalities of treatment for end-stage renal failure, transplantation should be considered the treatment of choice for end-stage ADPKD. There is no justification for routine bilateral nephrectomy before renal transplantation.     

Transplantation of a cadaveric polycystic kidney in a patient with autosomal dominant polycystic kidney disease: long-term outcome

INTRODUCTION: Kidneys from donors affected by autosomal dominant polycystic kidney disease (ADPKD) were considered unusable for transplantation. To the best of our knowledge, seven cases worldwide have now been described in the English literature since 1967 suggesting such donor organs may be acceptable under certain conditions. Most of these reports have only short-term follow-up. METHODS: We provide a review of these patients and share our experience with an ADPKD patient who had a cadaveric ADPKD transplant and has been closely followed for 10 years. RESULTS: During the 10-year period, the patient had three transplant biopsies without complication. This creatinine is currently 1.2 mg/dL. Serial computed tomography imaging indicated that the cystic disease slowly progressed during this time period. He eventually developed intractable pain in his native left kidney and underwent a laparoscopic nephrectomy. CONCLUSIONS: Normal functioning cadaveric kidneys that show early signs of polycystic kidney disease should be considered acceptable for renal donation. These organs provide the recipient a safe, reasonable period of graft survival and have not been shown to cause adverse effects.     

Boy with autosomal recessive polycystic kidney and autosomal dominant polycystic liver disease

BACKGROUND: Autosomal recessive polycystic kidney disease (ARPKD) shows a great phenotypic variability between patients, ranging from perinatal demise to mildly affected adults. Autosomal dominant polycystic liver disease (PCLD) does not manifest in childhood. CASE-DIAGNOSIS/TREATMENT: A boy was reported with the co-occurrence of ARPKD and PCLD. He presented at the age of 16 days with pyelonephritis and urosepsis. Subsequent investigations showed enlarged kidneys and hyperechogenic renal medulla and liver parenchyma. Genetic analysis revealed compound heterozygous mutations in the PKHD1 gene (p.Arg496X and p.Ser1862Leu). After his mother was diagnosed with PCLD, the finding of a liver cyst on ultrasound prompted analysis of the PRKCSH gene, revealing a missense mutation (p.Arg139His). At the most recent follow-up at 13 years of age, the patient's course and clinical examination was uneventful with normal renal and liver function without evidence of portal hypertension. CONCLUSIONS: The patient with ARPKD and PCLD has so far demonstrated a benign clinical outcome, consistent with the great phenotypic variability of ARPKD and, apart from the liver cyst, asymptomatic manifestation of PCLD in childhood. However, close long-term follow-up is mandatory.     

Hypertension in autosomal dominant polycystic kidney disease

Autosomal dominant polycystic kidney disease (ADPKD) has been shown to be associated with a greater than 50 percent incidence of hypertension prior to deterioration in renal function as assessed by glomerular filtration rate. The present study provides evidence for increased cardiac pre-load, as assessed by plasma atrial natriuretic factor (ANF) and cardiac index, in hypertensive as compared to normotensive ADPKD. The hypertensive ADPKD patients exhibited an increased renal vascular resistance as compared to the normotensive patients in spite of comparable glomerular filtration rates. It is hypothesized that the renal involvement of hypertensive ADPKD patients causes an impaired renal response to the observed increase in cardiac index, and also may release a venoconstrictor (such as angiotensin) which contributes to the enhanced cardiac pre-load and thus the hypertension.     

Intra-operative inferior vena cava syndrome in a patient with autosomal dominant polycystic kidney disease

The renal and hepatic cysts characteristic of autosomal dominant polycystic kidney disease can exert a mass effect on surrounding structures. If this involves the inferior vena cava (IVC), patients usually present with signs and symptoms characteristic of congestive heart failure. However, the absence of these signs or symptoms does not exclude a potentially hemodynamically significant IVC syndrome. This case report describes a patient with no pre-operative evidence of congestive heart failure or IVC compression, who subsequently experienced intra-operative hypotension and hypoxemia due to an IVC syndrome.     

Hyperbaric oxygen therapy in a patient with autosomal dominant polycystic kidney disease with a perinephritic abscess

A 68-year-old female in hemodialysis due to autosomal dominant polycystic kidney disease underwent resection of cysts in her right kidney via a laparoscopic approach due to abdominal pain. Three weeks after surgery, she was admitted with sepsis. A CT scan showed a large abscess around the right kidney. Percutaneous drainage of abscess was performed. The pus smear showed Gram-positive cocci and the culture contained methicillin-resistant Staphylococcus aureus. Ciprofloxacin, clindamycin and vancomycin were given. In the 3 weeks following admission, she remained febrile and septic and showed a progressive deterioration in her general condition, along with malnutrition and persistent drainage of purulent material from her right flank. The antibiotic therapy was changed to vancomycin, metronidazole and meropenem, but no improvement was observed. Because of the high risk associated with carrying out an open nephrectomy, we decided to use hyperbaric oxygen therapy (HBOT) as a potentially useful measure to control her infection. The patient underwent 26 daily sessions of 100% hyperbaric oxygen (2.5 atm). The use of HBOT induced a notable break in the clinical course of this patient’s retroperitoneal infection. She was discharged after day 58 without any signs of inflammatory activity, and she has not presented reactivation of infection since then. We think that this case suggests that this therapy could be a new therapeutic tool in the management of patients with similar clinical features when all other therapeutic measures have failed. We did not find any other reports of the use of HBOT in infections of renal cysts.     

Transitional cell carcinoma of the renal pelvis in a long-term hemodialysis patient with autosomal dominant polycystic kidney

We present a case of renal pelvic transitional cell carcinoma (TCC) accompanied by autosomal dominant polycystic kidney disease (ADPKD). An 81-year-old woman on long-term hemodialysis for ADPKD visited the Department of Urology at Kouseiren Takaoko Hospital, complaining of asymptomatic macroscopic hematuria. Retrograde pyelogram showed an irregular filling defect in the right renal pelvis, which suggested the right renal pelvic tumor. We performed right nephrectomy and transurethral removal of the right ureter. Histological diagnosis demonstrated renal pelvic TCC.     

Angiogenesis and autosomal dominant polycystic kidney disease

Autosomal dominant polycystic kidney disease (ADPKD) is characterized by the growth of multiple cysts that in many cases result in end-stage renal disease. Current strategies to reduce cyst progression in ADPKD focus on modulating cell turnover, fluid secretion, and vasopressin signalling; but an alternative approach may be to target pathways providing “general support” for cyst growth, such as surrounding blood vessels. This could be achieved by altering the expression of growth factors involved in vascular network formation, such as the vascular endothelial growth factor (VEGF) and angiopoietin families. We highlight the evidence that blood vessels and vascular growth factors play a role in ADPKD progression. Recent experiments manipulating VEGF in ADPKD are described, and we discuss how alternative strategies to manipulate angiogenesis may be used in the future as a novel treatment for ADPKD.