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Table of Contents
Year : 2019  |  Volume : 8  |  Issue : 2  |  Page : 115-117

Clinical manifestations, imaging findings and laboratory abnormalities in 51 patients with autosomal dominant polycystic kidney disease: Experience at Tirupati, South India

Department of Nephrology, SVIMS, Tirupati, Andhra Pradesh, India

Date of Web Publication11-Nov-2019

Correspondence Address:
R Ram
Professor and Head, Department of Nephrology, SVIMS, Tirupati, Andhra Pradesh
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/JCSR.JCSR_83_19

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How to cite this article:
Ram R. Clinical manifestations, imaging findings and laboratory abnormalities in 51 patients with autosomal dominant polycystic kidney disease: Experience at Tirupati, South India. J Clin Sci Res 2019;8:115-7

How to cite this URL:
Ram R. Clinical manifestations, imaging findings and laboratory abnormalities in 51 patients with autosomal dominant polycystic kidney disease: Experience at Tirupati, South India. J Clin Sci Res [serial online] 2019 [cited 2020 Jul 8];8:115-7. Available from: http://www.jcsr.co.in/text.asp?2019/8/2/115/270758

The article[1] published by Bhargav et al. in J Clin Sci Res October–December 2018 on autosomal dominant polycystic kidney disease (ADPKD) is an interesting read. Seeking a few clarifications may not be impudent.

The statistics in the Nephrology Outpatient Department of Sri Venkateswara Institute of Medical Sciences reveal more than 80 new patients of ADPKD sought consultations in the last 4 years. Between 2009 and 2018, the number of patients would have been more than 51. The authors had not illuminated whether these 51 patients were consecutive patients or chosen patients

Ravine's criteria for the diagnosis of ADPKD were published in 1994.[2] The unified criteria for ultrasonographic diagnosis of ADPKD published in 2009 are followed at present. The advantage of the latter criteria is that patients aged more than 15 years could also be included in the diagnosis of ADPKD[3]

In the Toronto Genetic Epidemiology Study of Polycystic Kidney Disease,[4] 15.3% (32 of 209) of ADPKD patients had de novo disease and 10.5% (22 of 209) with an indeterminate family history. Patients of de novo disease and with indeterminate family history had atypical features such as (1) asymmetric, (2) unilateral or (3) focal disease. For patients without a positive family history, the diagnosis of ADPKD required the presence of at least ten cysts in each kidney, with both kidneys >13 cm in length.[4] In the present study, the documented family history of ADPKD was present only in 13 (26%) patients. The authors did not mention the criteria applied for diagnosis of the remaining 38 (74.5%) patients. Also, the article might have had a new dimension if a mention of atypical disease in these patients with indeterminate family history was done

The article did not mention the mean and the range of the kidney sizes and the kidney volumes. The article did also not mention the mean and the range of the serum creatinine, even though 36 (71%) patients had chronic kidney disease (CKD) at presentation. Not a single laboratory value had been highlighted in the article even though the title declared so

In his classic thesis on ADPKD, Dalgaard[5] had data on 346 patients in Denmark. In Dalgaard's study, strict criteria were used to declare the kidneys palpable, and the physical examination was confirmed by intravenous urography or retrograde pyelography. He found that palpable kidneys and pain appeared before the onset of uraemia in relatively young individuals, a precedence that was maintained to the age of 70 years. Dalgaard concluded that the increase in renal size as a result of the cysts antedated the loss of function. In the present study, 20 (39.1%) patients had normal-sized kidneys, whereas 36 (71%) patients had CKD. A lone patient had small-sized kidneys. A simple math clarified that 30 (51− [20 − 1] = 30) patients had enlarged kidneys with reduced renal function and 6 (36 − 30 = 6) patients had reduced renal function with normal kidney sizes, but with the number of cysts that satisfied the criteria of ADPKD. It is possible to see patients with enlarged kidneys and many cysts and normal renal function but patients with reduced renal function with normal kidney sizes with cysts are seldom encountered. The data of these six patients deserved a special mention

What would be the reason for small-sized kidneys in ADPKD?

The incidence of renal cell carcinoma (RCC) is not known to be increased in patients with ADPKD. The textbooks of the nephrology state this fact.[6],[7] However, presentation may be different in this population, with more bilateral, metastatic and multicentric tumours at diagnosis, a younger age of onset and more constitutional symptoms such as fever.[8] Diagnosis of carcinoma is also difficult in ADPKD. What were the morphology and histology of the RCC in ADPKD patient? The reference cited in the article,[9] in very carefully crafted words, stated that 'Kidney-related prevalence of RCC (renal cell carcinoma) in ADPKD kidneys was surprisingly high. Whether or not this is due to chronic dialysis or due to the underlying disease is still speculative. Like other cystic renal diseases with an increased risk for RCC, the attending physician should be aware of the malignant potential of ADPKD, especially with concomitant dialysis'

Diagnosis of nephrolithiasis in ADPKD is difficult for the symptoms of renal calculi like loin pain and haematuria are also common due to cyst growth, haemorrhage and infection. Cyst wall and parenchymal calcification complicate the radiological detection of stones. In the present article, renal stones were present in 6 (14.6%) of 51 patients. An elaboration on the following may be prudent: (a) method of the diagnosis, (b) stone composition and (c) the size of the kidneys in patients with stones

What were the predictors of the early hypertension in these patients of ADPKD?

Cerebral aneurysm rupture in ADPKD is a catastrophic event, but with an incidence of 1/2000 patient-years.[10] Most aneurysms in ADPKD therefore do not rupture; ischaemic stroke and hypertensive non-aneurysmal haemorrhage are more common causes of neurological symptoms in ADPKD. In the present article, there were patients with headache (n = 11, 21%), altered sensorium (n = 6, 12%) and intracerebral bleed (n = 4; 8%). The causes of the headache and altered sensorium had not been mentioned. The clinical features, the family history of the patients and imaging results of patients with intracerebral bleed are worth a read. How many of these patients had 'warning headache?' Considering 71% patients had CKD, what was the first imaging done – computerised tomographic angiogram or magnetic resonance angiogram? What were the treatment outcomes of the intracerebral bleed? What were the screening imaging results of the other family members with ADPKD?

The classic auscultatory finding of mitral valve prolapse (MVP) is a mid-to-late systolic click. It may or may not be followed by a high-pitched, mid-to-late systolic murmur at the cardiac apex. Was there no mid-systolic click in the two patients with MVP? Was one of them had Marfan's syndrome?

The frequency of the pancreatic, seminal vesicle, ejaculatory and lung cysts and colonic diverticulum should have been mentioned in the article

Several reports[11],[12],[13],[14],[15],[16],[17] exist of the co-occurrence of ADPKD and Marfan's syndrome

In discussion, many points were left to the posterity as research points. In fact, all of these are discussed in the literature. A careful search would have been sufficed. One example is the co-occurrence of Marfan's syndrome and ADPKD

[Figure 2] did not depict polycystic kidneys.{Figure 2}

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  References Top

Bhargav KM, Kumar BS, Mohan A, Aramadhaka LR, Prajwal BM, Kumar DP, et al. Clinical manifestations, imaging findings and laboratory abnormalities in 51 patients with autosomal dominant polycystic kidney disease: Experience at Tirupati, South India. J Clin Sci Res 2018;7:165-9.  Back to cited text no. 1
  [Full text]  
Ravine D, Gibson RN, Walker RG, Sheffield LJ, Kincaid-Smith P, Danks DM, et al. Evaluation of ultrasonographic diagnostic criteria for autosomal dominant polycystic kidney disease 1. Lancet 1994;343:824-7.  Back to cited text no. 2
Pei Y, Obaji J, Dupuis A, Paterson AD, Magistroni R, Dicks E, et al. Unified criteria for ultrasonographic diagnosis of ADPKD. J Am Soc Nephrol 2009;20:205-12.  Back to cited text no. 3
Iliuta IA, Kalatharan V, Wang K, Cornec-Le Gall E, Conklin J, Pourafkari M, et al. Polycystic kidney disease without an apparent family history. J Am Soc Nephrol 2017;28:2768-76.  Back to cited text no. 4
Dalgaard OZ. Bilateral polycystic disease of the kidneys; a follow-up of two hundred and eighty-four patients and their families. Acta Med Scand Suppl 1957;328:1-255.  Back to cited text no. 5
Ong AC, Ellam T Autosomal dominant polycystic kidney disease: Clinical features. In: Turner NN, Lameire N, Goldsmith DJ, Winearls CG, Himmelfarb J, Remuzzi G, editors. Oxford Textbook of Clinical Nephrology. 4th ed. Oxford: Oxford University Press; 2016. p. 2627-33.  Back to cited text no. 6
Torres VE, Harris PC. Cystic diseases of the kidney. Skorecki K, Chertow GM, Marsden PA, Taal MW, Yu AS, editors. Brenner and Rector's The Kidney. 10th ed. Philadelphia: Elsevier; 2016. p. 1475-521.  Back to cited text no. 7
Bonsib SM. Renal cystic diseases and renal neoplasms: A mini-review. Clin J Am Soc Nephrol 2009;4:1998-2007.  Back to cited text no. 8
Jilg CA, Drendel V, Bacher J, Pisarski P, Neeff H, Drognitz O, et al. Autosomal dominant polycystic kidney disease: Prevalence of renal neoplasias in surgical kidney specimens. Nephron Clin Pract 2013;123:13-21.  Back to cited text no. 9
Schievink WI, Torres VE, Piepgras DG, Wiebers DO. Saccular intracranial aneurysms in autosomal dominant polycystic kidney disease. J Am Soc Nephrol 1992;3:88-95.  Back to cited text no. 10
Hateboer N, Buchalter M, Davies SJ, Lazarou LP, Ravine D. Co-occurrence of autosomal dominant polycystic kidney disease and Marfan syndrome in a kindred. Am J Kidney Dis 2000;35:753-60.  Back to cited text no. 11
booth CC, Loughridge LW, Turner MD. Arachnodactyly with congenital lesions of the urinary tract. Br Med J 1957;2:80-3.  Back to cited text no. 12
Di Matteo J, Picard R, Vacheron A, Bensaid J. Renal polycystosis associated with partial Marfan's syndrome with dilatation of the ascending aorta and aortic insufficiency. Bull Mem Soc Med Hop Paris 1965;116:1665-73.  Back to cited text no. 13
Selgas R, Temes JL, Sobrino JA, Viguer JM, Otero A, Sánchez Sicilia L. [Polycystic renal disease in the adult associated with an incomplete form of Marfan's syndrome (author's transl)]. Med Clin (Barc). 1981;76:311-3.  Back to cited text no. 14
Ortino O, Bonanni F, Ruffino C, Maiolino L, Tedoldi A. [Hepato-renal polycystosis, Marfan's syndrome and spina bifida occulta: a complex association. Description of a clinical case]. Minerva Med 1988;79:1105-7.  Back to cited text no. 15
Biermann CW, Gasser TC, Breuer C, Rutishauser G. Marfan syndrome and cystic kidneys of the adult type. Helv Chir Acta 1992;59:513-5.  Back to cited text no. 16
Somlo S, Rutecki G, Giuffra LA, Reeders ST, Cugino A, Whittier FC. A kindred exhibiting cosegregation of an overlap connective tissue disorder and the chromosome 16 linked form of autosomal dominant polycystic kidney disease. J Am Soc Nephrol 1993;4:1371-8.  Back to cited text no. 17

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KM Bhargav,BSiddhartha Kumar,Alladi Mohan,LavakumarReddy Aramadhaka,BManoj Prajwal,DPrabath Kumar,BVijayalakshmi Devi,V Sivakumar
Journal of Clinical and Scientific Research. 2019; 8(2): 118
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