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Saudi Journal of Kidney Diseases and Transplantation
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Year : 2017  |  Volume : 28  |  Issue : 2  |  Page : 441-444
Association between autosomal dominant polycystic kidney disease and autoimmune diseases: A simple coincidence or more?

1 Department of Medicine A, Charles Nicolle Hospital; Laboratory of Renal Pathology LR00SP01, Charles Nicolle Hospital, Tunis, Tunisia
2 Department of Medicine A, Charles Nicolle Hospital, Tunis, Tunisia

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Date of Web Publication23-Mar-2017

How to cite this article:
Barbouch S, Hajji M, Jaziri F, Harzallah A, Fellah E, Hedri H, Hamida FB, Abdelghani KB, Abdallah TB. Association between autosomal dominant polycystic kidney disease and autoimmune diseases: A simple coincidence or more?. Saudi J Kidney Dis Transpl 2017;28:441-4

How to cite this URL:
Barbouch S, Hajji M, Jaziri F, Harzallah A, Fellah E, Hedri H, Hamida FB, Abdelghani KB, Abdallah TB. Association between autosomal dominant polycystic kidney disease and autoimmune diseases: A simple coincidence or more?. Saudi J Kidney Dis Transpl [serial online] 2017 [cited 2022 Oct 1];28:441-4. Available from: https://www.sjkdt.org/text.asp?2017/28/2/441/202772
To the Editor,

Autosomal dominant polycystic kidney disease (ADPKD) is one of the most prevalent inheritable kidney disorders globally. The coexistence of ADPKD and autoimmune diseases is unusual and is rarely reported in literature.[1],[2] Renal and extrarenal manifestations may be present in both conditions making the diagnosis difficult. Moreover, this association may worsen renal and total prognosis. We had two patients with such association: one with ADPKD associated with nephrotic syndrome due to lupus nephritis (LN) and the second with systemic sclerosis (Ssc) diagnosed with ADPKD at the time of presenting with scleroderma renal crisis (SRC).

A 23-year-old female patient with a family history of ADPKD (her mother started hemodialysis before the age of 50-year-old), presented to our Nephrology Department on account of body swelling, proteinuria (2.4 g/24 h) and high blood pressure. She had facial puffiness, facial swelling, and massive lower limb edema, and she complained of excruciating headache during the preceding three months. She was treated by Ramipril. At admission, her blood pressure was 120/80 mm Hg, and she no longer had edema. Dip sticks showed proteinuria but no hematuria. The abdominal examination showed enlarged right kidney. Renal ultrasound revealed bilateral, enlarged polycystic kidneys. Laboratory findings showed normal serum creatinine was (56 μmol/L). Her hemogram showed leukopenia and anemia, and the erythrocyte sedimentation rate (ESR) was 80 mm in the 1st h. She had a high level of high-density lipoprotein cholesterol of 0.8 g/L and triglyceride of 2.24 g/L, hypoalbuminemia (26 g/L), and heavy proteinuria (4.5 g/L) which prompted the diagnosis of nephrotic syndrome. Urine culture was sterile.

Three days after hospitalization, she presented with transient ischemic cerebral attack. Neurological examination showed slight right stepping with left hemihypesthesia, cognitive impairment affecting memory, and attention with moderate depression. Cardiac evaluations (electrocardiogram and transesophageal echo-cardiography) were normal. Brain imaging revealed multiple infarcts, irregular infiltration of the left middle cerebral artery, and a posterior arachnoids cyst [Figure 1]. Thrombophilia screening including protein C and S, anti-thrombin III, homocysteine were all normal. Serology showed a strong positive homogenous pattern for the antinuclear factor while the antidouble stranded DNA titer was elevated to 1/1200. Renal biopsy was not done. All these data were in keeping with LN. Thus, it was possible to make a diagnosis of systemic lupus erythematosus (SLE) with both renal and cerebrovascular involvement. She received intravenous methyl prednisolone (1 g daily for 3 days) followed up with tapered doses of oral prednisolone (1 mg/kg/day) and cyclophosphamide intravenous pulses (1 pulse/ month during six months) relayed by mycophenolate mofetil (2 g/day). She also received aspirin and captopril. After six months of treatment, she achieved complete remission with proteinuria, and ESR reduced to 0.6 g/L and 20 mm, respectively. After three years of treatment, she still in remission, with no cerebral attack recurrence and a normal renal function.
Figure 1: Frontal hypodensity, temporal and frontoparietal left with irregular infiltration of the left middle cerebral artery responsible for multiple stenosis.

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Another case was that of a 44-year-old woman who was admitted to our nephrology department for renal failure and severe hypertension. The diagnosis SSc had been made 13 years earlier when she had been admitted to hospital because of skin necrosis in the second left finger. One year ago, she had distal ischemia of both lower limbs leading to amputation. During that period, the diagnosis of mild pulmonary fibrosis had been made, and she had been treated with 10 mg of prednisone, diltiazem, and Vitamin E. On clinical history, there was a history of nonadherence to treatment and irregular consultations. Five months ago, she completely stopped taking her medication. On physical examination, her blood pressure was 200/120 mm Hg, pulse rate was 100/min, and body temperature was 36.5°C, while the cutaneous examination revealed bilateral suppurating ulcerations of fingers and severe sclerodactyly. On dipstick, there was proteinuria at ++ and no hematuria. The examinations of other systems proved normal.

The laboratory examination showed a serum creatinine level of 233 μmol/L with an estimated glomerular filtration rate (eGFR) of 21 mL/min/1.73 m2 (Modification of Diet in Renal Disease equation).

Her hemogram showed anemia (hemoglobin: 11.5 g/dL) with no leukopenia nor thrombocytopenia. We noted also an elevated serum lactate dehydrogenase level (621 UI/L) with normal rate of CPK and liver enzymes. The ESR was 120 mm in the 1st h, and C-reactive protein was 15 mg/L, serum total protein: 73 g/L; serum albumin: 21 g/L and gamma globulinemia: 18.7g/L; and proteinuria: 1.89 g/day. The urine culture was sterile. Renal ultrasound showed bilateral polycystic kidney without obstruction with normal Doppler of the renal arteries. Echocardiography was normal, with good left ventricular function and no pulmonary hypertension. Immunology tests were positive for antinuclear, anti-Scl, and IgG anticardiolipin antibodies. A family history of ADPKD was found, with two siblings involved when we took over the questioning of the patient. The diagnosis of ADPKD with SSC was made. The treatment included captopril, prednisolone, diltiazem and Vitamin E. Two years after, there was normalization of blood pressure, regression of proteinuria, and decrease of the serum creatinine (111 μmol/L) with eDFG of 49 mL/min. Since that, she was only followed up for two years then she never consulted.

ADPKD is a multisystem and progressive disorder characterized by cyst formation and enlargement in the kidney.

Extra renal manifestations are common and include cerebral and coronary artery aneurysms, cardiac valve disease, and cysts in the liver, pancreas, and intestines.[1] That was illustrated in Case 1. In fact, our patient presented a posterior arachnoids cyst.

Pain in the abdomen, flank, or back is the most common initial complaint. However, ADPKD may remain asymptomatic for a longtime[2] as in both of our cases. Thus, ultrasonography is the procedure of choice in the workup of patients with ADPKD. It is also ideal for screening patients’ family members.[3]

Up to 50% of patients with ADPKD require renal replacement therapy by 60 years of age.[1] The most important risk factors are probably mutations in the PKD1 gene and hypertension, but other risk factors that predict more severe disease include younger age, black race, proteinuria >1 g/day, hematuria, and increased number and volume of renal cysts.[4] Our first patient had at least three risk factors of poor renal prognosis. In the second patient, ADPKD was not the cause of the acute onset of renal failure, but it would certainly worsen long-term renal prognosis.

The urinary excretion of protein is usually <2 g/24 h and the frequency of occurrence of nonnephrotic proteinuria in ADPKD ranged from 14% to 34% in nonuremic adults to about 80% in adults with advanced kidney failure.[5] In 1957, Dalgaard described three instances of nephrotic-range proteinuria in a report reviewing 122 patients with ADPKD, but renal biopsy data were not included in the study.[6]

The clinical data of ADPKD patients with nephrotic syndrome suggest that they show faster progression to end-stage renal disease than ADPKD patients without nephrotic syndrome and the appearance of nephrotic-range proteinuria indicates the presence of treatable superimposed glomerular lesions.[7] Both our patients did not have renal biopsy because of the risk of hemorrhagic. However, renal biopsy should be recommended in such patients.[8]

LN is very rare in patients with ADPKD.[9] To the best of our knowledge, this first index case is the fifth reported case. On the other hand, we should note that it there is an increasing incidence of the report of lupus nephritis induced nephrotic syndrome in patients with coexisting ADPKD in recent times in contrast to earlier period.[10],[11] Since Wan et al,[12] 10 cases have been reported (including this report). Among them, three renal biopsies showed LN while others showed one each of idiopathic membranous glomerulonephritis, diffuse proliferative glomerulonephritis, amyloidosis, mesangioproliferative glomerulonephritis, and focal segmental glomerulosclerosis.[9],[12],[13],[14],[15]

SSc is a systemic connective tissue disease. Characteristics of Ssc include essential vasomotor disturbances and fibrosis.[16] Skin, lung, and esophagus are commonly involved. SRC is an uncommon complication of Ssc.[17] It is one of the most severe complications of Ssc. SRC usually manifests as acute or rapid progressive renal failure associated with uncontrolled hypertension. The cardinal features of SRC comprise a new onset of significant systemic hypertension (>150/85 mm Hg) and decreased renal function (≥30% reduction in eGFR),[18],[19] which was the case of our second patient. However, hypertension can also be secondary to ADPKD since it is common in this population even before the onset of renal failure.[20] To the best of our knowledge, this is the first case report describing the coexistence of ADPKD and SSc. In both cases, the association between autoimmune disease and ADPKD was probably accidental. However, a genetic predilection cannot be excluded from the study.

In summary, nephrotic syndrome occurs in a minority of ADPKD patients and its presence denotes severe renal involvement both structurally and functionally. The association between ADPKD and SLE has been described in the literature. A biopsy should be considered when unusual manifestations such as nephrotic-range proteinuria are detected. For the SSc and ADPKD, to the best of our knowledge, this is the first case reported in literature. We speculate that these two pathologies were coincidental.

Conflict of interest:

None declared.

   References Top

Hiura T, Yamazaki H, Saeki T, et al. Nephrotic syndrome and IgA nephropathy in polycystic kidney disease. Clin Exp Nephrol 2006;10:136-9.  Back to cited text no. 1
Milutinovic J, Fialkow PJ, Agodoa LY, Phillips LA, Rudd TG, Bryant JI. Autosomal dominant polycystic kidney disease: Symptoms and clinical findings. Q J Med 1984;53:511-22.  Back to cited text no. 2
Belibi FA, Edelstein CL. Unified ultrasonographic diagnostic criteria for polycystic kidney disease. J Am Soc Nephrol 2009;20:6-8.  Back to cited text no. 3
Gabow PA, Johnson AM, Kaehny WD, et al. Factors affecting the progression of renal disease in autosomal-dominant polycystic kidney disease. Kidney Int 1992;41:1311-9.  Back to cited text no. 4
Chapman AB, Johnson AM, Gabow PA, Schrier RW. Overt proteinuria and microalbuminuria in autosomal dominant polycystic kidney disease. J Am Soc Nephrol 1994;5:1349-54.  Back to cited text no. 5
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. 6
Contreras G, Mercado A, Pardo V, Vaamonde CA. Nephrotic syndrome in autosomal-dominant polycystic kidney disease. J Am Soc Nephrol 1995;6:1354-9.  Back to cited text no. 7
Yenigun EC, Dede F, Ozkayar N, et al. Coexistence of autosomal dominant polycystic kidney disease and amyloidosis in a patient with nephrotic-range proteinuria. Iran J Kidney Dis 2014;8:243-5.  Back to cited text no. 8
Park JI, Lee H, An JN, Chin HJ, Kim S. Laparoscopic biopsy-proven lupus nephritis in autosomal dominant polycystic kidney disease. Kidney Res Clin Pract 2012;31:192-5.  Back to cited text no. 9
Visciano B, Di Pietro RA, Rossano R, et al. Nephrotic syndrome and autosomal dominant polycystic kidney disease. Clin Kidney J 2012; 5:508-11.  Back to cited text no. 10
Akinbodewa AA, Adejumo OA, Ogunsemoyin AO, Osasan SA, Adefolalu OA. Coexisting autosomal dominant polycystic kidney disease and nephrotic syndrome in a Nigerian patient with lupus nephritis. Ann Afr Med 2016;15:83-6.  Back to cited text no. 11
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Wan RK, Kipgen D, Morris S, Rodger RS. A rare cause of nephrotic syndrome in autosomal-dominant polycystic kidney disease. NDT Plus 2009;2:136-8.  Back to cited text no. 12
Peces R, Martinez-Ara J, Peces C, et al. Nephrotic syndrome and idiopathic membranous nephropathy associated with autosomal-dominant polycystic kidney disease. Scientific World Journal 2011;11:1041-7.  Back to cited text no. 13
D’Cruz S, Singh R, Mohan H, et al. Autosomal dominant polycystic kidney disease with diffuse proliferative glomerulonephritis – An unusual association: A case report and review of the literature. J Med Case Rep 2010;4:125.  Back to cited text no. 14
Savaj S, Parvin M, Savoj J. Massive protei nuria and autosomal dominant polycystic kidney disease: A rare coincidence. Iran J Kidney Dis 2012;6:73-6.  Back to cited text no. 15
Park JS, Park MC, Song JJ, Park YB, Lee SK, Lee SW. Application of the 2013 ACR/ EULAR classification criteria for systemic sclerosis to patients with Raynaud’s phenomenon. Arthritis Res Ther 2015;17:77.  Back to cited text no. 16
Ghossein C, Varga J, Fenves AZ. Recent developments in the classification, evaluation, pathophysiology, and management of scleroderma renal crisis. Curr Rheumatol Rep 2016; 18:5.  Back to cited text no. 17
Penn H, Howie AJ, Kingdon EJ, et al. Scleroderma renal crisis: Patient characteristics and long-term outcomes. QJM 2007;100:485-94.  Back to cited text no. 18
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Sans-Atxer L, Torra R, Fernández-Llama P. Hypertension in autosomal-dominant polycystic kidney disease (ADPKD). Clin Kidney J 2013;6:457-63.  Back to cited text no. 20

Correspondence Address:
Dr. Meriam Hajji
Department of Medicine A, Charles Nicolle Hospital, Tunis
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/1319-2442.202772

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