| Abstract|| |
Thirty cases of autosomal dominant polycystic kidney disease (ADPKD) seen at King Fahd Hospital of the University, Al-Khobar over a period of eight years, were analysed with respect to clinical features, laboratory investigations, radiological findings, complications and outcome. There were 13 males and 17 females with a mean age of 45 yrs + 10.1 (range 16-65 years). There was positive family history of renal disease in 17 cases. At the time of presentation, 27 cases had abdominal pain. The other features noted were hematuria (20 cases), polyuria (10 cases), urinary tract infection (22 cases), headache (9 cases), uremia (7 cases) and nephrolithiasis (5 cases). Bilaterally palpable kidneys were present in all cases. Hypertension (17 cases) was the next common clinical finding. Other clinical features noted were hepatomegaly (5 cases) and mitral valve prolapse (5 cases). Twenty-one patients had cysts in liver and five had cysts in spleen. Varying degrees of renal failure were seen in 15 cases. Six (20%) patients progressed to end stage renal disease during the period of observation.
Keywords: Autosomal dominant polycystic kidney disease (ADPKD), Hereditary renal disease, Renal failure.
|How to cite this article:|
Al-Muhanna FA, Malhotra KK, Saeed I, Al-Mueilo S. Autosomal Dominant Polycystic Kidney Disease: Observations from a University Hospital in Saudi Arabia. Saudi J Kidney Dis Transpl 1995;6:28-31
|How to cite this URL:|
Al-Muhanna FA, Malhotra KK, Saeed I, Al-Mueilo S. Autosomal Dominant Polycystic Kidney Disease: Observations from a University Hospital in Saudi Arabia. Saudi J Kidney Dis Transpl [serial online] 1995 [cited 2020 Jan 18];6:28-31. Available from: http://www.sjkdt.org/text.asp?1995/6/1/28/40895
| Introduction|| |
Autosomal dominant polycystic kidney disease (ADPKD) is an important cause of end stage renal disease and constitutes six to nine percent of cases undergoing renal transplantation , . The prevalence of this disease in various countries/communities is not precisely known. It is estimated that as many as one in 1000 persons would develop ADPKD if they survived to the age of 80 years  Diagnosis is often delayed as initial symptoms may be mild and vague. We analyzed the observations on the cases of ADPKD visiting our renal clinic during an eight year period from 1984-1992 and are hereby reporting our findings and follow-up observations.
| Material and Methods|| |
The case records of the study cases were analyzed with respect to age, sex, nationality, clinical features, laboratory investigations, radiological findings, complications and outcome. Laboratory evaluation included urine analysis with special attention to proteinuria, sediment, specific gravity, 24 hour urinary protein, renal functions (blood urea nitrogen, serum creatinine and serum electrolytes) and ultrasound of the abdomen for kidneys, liver and spleen. Intravenous pyelogram and CT scan of abdomen were done in selected cases when a definitive diagnosis of ADPKD could not be made on abdominal ultrasound. The diagnosis of ADPKD was made when the presence of five or more renal cysts distributed between both kidneys was demonstrated. The requirement for diagnosis of associated hepatic involvement was presence of at least one cyst in the liver. Echocardiography was done to evaluate cardiac murmurs and associated mitral valve prolapse, based on standard criteria. Laboratory investigations were performed serially to assess the progress of the disease.
| Observations|| |
There were 30 cases (13 males and 17 females) of ADPKD in this study, with a mean age of 45 + 10.1 years (range 16-65 years). Saudis constituted 56 percent of the total. Family history of renal disease was obtained in 17 cases. Twenty-seven patients were symptomatic with abdominal pain at the time of presentation [Table - 1].
Kidneys were enlarged and bilaterally palpable in all cases. Hypertension was found in 17 cases. It was mild in seven cases (140/90 to 160/100 mmHg) and moderate in 10 cases (160/100 to 180/110 mmHg). There was evidence of hypertensive heart disease in two cases. One patient developed subarachnoid hemorrhage during the follow-up period.
Urine analysis showed microscopic hematuria in 20 cases; there was gross hematuria in six. Twenty-one cases showed significant and persistent proteinuria. It was mild in 16 cases (less than 1 g/24hr). Urinary tract infection was clinically diagnosed in 21 cases after the diagnosis of ADPKD was made. Positive urine cultures were documented in seven patients. Renal stones were present in five.
Ultrasound of the kidneys showed the kidney size to be ranging from 14.5 x 6.5 x 4.5 cm to 26.2 x 8.5 x 6.5 cm with multiple cysts of variable sizes. Twenty-one patients had cysts in liver and five cases had cysts in spleen. Evidence of mitral valve prolapse was found in echocardiogram in five cases who had systolic murmur.
There was varying degrees of renal failure in 15 cases. Serum creatinine was 177 to 442 µmol/L in six cases, 443 to 884 µmol/L in three and above 884 µmol/L in six. Two patients in the last group (with serum creatinine above 884 (µmol/L) have been transplanted successfully. Another two patients of this group are currently on maintenance hemodialysis. The remaining two patients are being continued on conservative medical management since they are not willing for dialysis treatment. Four patients died during follow-up; two had cardiac arrest, one died because of malignancy diagnosed as adenocarcinoma of small intestines, and one due to subarachnoid hemorrhage.
| Discussion|| |
In a patient with ADPKD, the diagnosis is often made late, since most of the patients are asymptomatic during the early part of the disease. Medical consultation and help is usually sought only when they have symptoms such as abdominal pain, hematuria, recurrent urinary tract infection or hypertension. These symptoms may mainfest either alone or in combination. Rarely, uremia may be the initial presentation of the disease.
The frequency of hypertension as the initial manifestation in ADPKD has been highly variable. In our series, hypertension was present in 57 percent of our patients at the time of their presentation, though only half of them were symptomatic. Various workers have observed hypertension in 13 to 81 percent of cases at the time of their initial presentation ,, . Gonzalo et al  found that hypertension was the most common feature in symptomatic patients and was present in 51 percent as the first symptom. It has been observed that the frequency of hypertension increased significantly with decreasing renal function  . The progression of renal disease is faster in hypertensive ADPKD patients as compared to those who are normotensive  .
Gross hematuria in ADPKD is a less frequent event and was seen in only 20 percent of our cases. It is, however, a dramatic event and leads to urgent medical consultation and rapid diagnosis. Microscopic hematuria is more frequent in this disease and was observed in 66 percent of our cases. It has been reported that patients with gross hematuria have more widespread disease and have worse prognosis; moreover frequency of hematuria increases with older age and larger kidney size  .
Urinary tract infection (UTI) is frequent in ADPKD. One or more episodes of urinary cases during the period of follow-up. Frequent episodes of urinary infection are however less common and were seen in only about 25 percent of females and in seven percent of males in a large study  . Sometimes UTI may be more resistant to treatment especially in patients with cyst infection. In such a situation, drugs that penetrate the cyst wall like trimethoprim-sulphamethaxazole, chloramphenicol and ci-profloxacin should be used.
Renal stones were present in 16.7 percent of our patients in contrast to 18 percent reported by Dalgaard  and 20 percent reported by Segal et al  . It should be kept in mind that renal colic in patients of ADPKD with nephrolithiasis may sometimes be due to hemorrhage in cysts rather than passage of urinary stone.
Cysts in liver may be seen in a large number of patients. We found hepatic cysts in 70 percent of our patients. They are usually asymptomatic but may become clinically significant later in life especially in those patients whose life is prolonged by maintainance hemodialysis.
One of the associated manifestation of ADPKD is occurence of cardiovascular lesions in a significant number of patients  . This may present as aortic root dilatation, aortic regurgitation or mitral valve prolapse. We found mitral valve prolapse in five of our patients. Such lesions are interesting from pathogenic point of view but are rarely significant clinically. Hossack et al found mitral valve prolapse in 26% out of 163 patients with ADPKD  .
Cerebral aneurysm is a well known manifestation of ADPKD  . Reasonable estimate for its prevalence is about 10 to 30 percent. We did not investigate our patients by cerebral angiography and hence cannot comment on the frequency of cerebral aneurysms among this group of patients. One of our patients, however, had cerebral hemorrhage which could have been due to rupture of a cerebral aneurysm.
The most important manifestation of ADPKD is renal failure. This was observed in 50 percent of our patients. In our series, renal failure occurred in 33 percent among patients below 40 years of age and in more of age. These findings are comparable to those of Zeier et al  and Parfrey et al  . The reported incidences of end stage renal failure in various studies have varied depending upon mean age of the patients studied and the duration of the study. The ESRD data from various registries indicate that ADPKD contributes to about 6 to 9 percent of patients of ESRD , .
| References|| |
|1.||Lowrie EG, Hampers CL. The success of medicare's end-stage renal-disease program: the case for profits and the private marketplace. N Engl J Med 1981;305:434-8. [PUBMED] |
|2.||Gabow PA. Autosomal dominant polycystic kidney disease. Am J Kidney Dis 1993;22:511-2. [PUBMED] |
|3.||Dalgaard OZ. Bilateral polycystic disease of the kidneys: A follow-up of two hundred and eightyfour patients and their families. Acta Med Scand 1957;328:(S)l-255. |
|4.||Milutinovic J. Fialkow PJ. Agodoa LY, Phillips LA, Rudd TG, Bryant JI. Autosomal dominantpolycystic kidney disease: symptoms and clinical findings. Q J Med 1984;53:511-22. |
|5.||Gonzalo A, Rivera M, Quereda C, Ortuno J. Clinical features and prognosis of adult polycystic kidney disease. Am J Nephrol 1990; 10:470-4. |
|6.||Zeier M, Geberth S, Ritz E, Jaeger T, Waldherr R. Adult dominant polycystic kidney disease-clinical problems. Nephron 1988;49:177-83. |
|7.||Gabow PA, Johnson AM, Kaehny WD, et al. Factors affecting the progression of renal disease in autosomal-doninant polycystic kidney disease. Kidney Int 1992;41:1311-9. [PUBMED] |
|8.||Gabow PA, Duley I, Johnson AM. Clinical profiles of gross hematuria in autosomal dominant polycystic kidney disease. Am J Kidney Dis 1992;20:140-3. [PUBMED] |
|9.||Segal AJ, Spataro RF, Barbaric ZL. Adult polycystic kidney disease: a review of 100 cases. J Urol 1977;118:711-3. [PUBMED] |
|10.||Leier CV, Baker PB, Kilman JW, Wooley CF. Cardiovascular abnormalities associated with adult polycystic kidney disease. Ann Intern Med 1984;100:683-8. [PUBMED] |
|11.||Hossack KF, Leddy CL, Johnson AM, Schrier RW, Gabow PA. Echocardiographic findings in autosomal dominant polycystic kidney disease. N Engl J Med 1988;319:907-12. [PUBMED] |
|12.||Levey AS, Pauker SG, Kassirer JP. Occult intracranial aneurysms in polycystic kidney disease. When is cerebral arteriography indicated? N Engl J Med 1983;308:986. |
|13.||Parfrey PS, Bear JC, Morgan J, et al. The diagnosis and prognosis of autosomal dominant polycystic kidney disease. N Engl J Med 1990;323:1085-90. [PUBMED] |
Fahad Abdulaziz Al-Muhanna
Assistant Professor, College of Medicine and Medical Sciences, King Fahd Hospital of the University, P.O. Box 2208, Al-Khobar 31952
[Table - 1]