Article Text

Download PDFPDF
CASE REPORT
Medullary sponge kidney and Caroli’s disease in a patient with stricture urethra: look for the hidden in presence of the apparent
  1. Rahul Janak Sinha,
  2. Ashish Sharma,
  3. Vishwajeet Singh and
  4. Siddharth Pandey
  1. Department of Urology, King George’s Medical University, Lucknow, Uttar Pradesh, India
  1. Correspondence to Dr Ashish Sharma, ashishuc343{at}gmail.com

Abstract

Caroli’s disease is a rare congenital disorder with incidence rate of approximately 1 in 1 000 000 population. Renal anomalies which may be associated with Caroli’s disease include medullary sponge kidney (MSK), cortical cysts, adult recessive polycystic kidney disease and rarely autosomal dominant polycystic kidney disease. Exact incidence of MSK in patients of Caroli’s disease is not known. There are only a handful of reported cases of this association in literature. We hereby report a case of Caroli’s disease with MSK with nephrocalcinosis. He presented to primary health centre with symptoms of urethral stricture due to lichen sclerosus et atrophicus and was managed with repeated co-axial dilatation but was never evaluated for underlying chronic renal insufficiency due to MSK. The thorough clinical examination and proper evaluation is important in patient of urethral stricture with underlying chronic renal insufficiency to avoid delayed diagnosis, management and related complications.

  • urology
  • radiology
  • chronic renal failure
  • congenital disorders
  • pancreas and biliary tract

Statistics from Altmetric.com

Request Permissions

If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.

Background 

Caroli’s disease (CD) is a rare congenital disorder with autosomal recessive inheritance pattern with incidence rate of approximately 1 in 1 000 000. It characterised by multifocal, non-obstructive segmental dilatation of intrahepatic bile ducts. CD may be associated with cholangitis, intrahepatic duct calculi, pancreatic cyst, cholangiocarcinoma and renal anomalies like medullary sponge kidney (MSK), cortical cysts, adult recessive polycystic kidney disease and rarely autosomal dominant polycystic kidney disease. There is only handful of reported cases of CD with MSK in published literature.

We hereby report a case of CD with MSK with nephrocalcinosis. He presented to primary health centre (PHC) with symptoms of urethral stricture due to lichen sclerosus et atrophicus and was managed with multiple time co-axial dilatation but was never evaluated for underlying chronic renal failure (CRF) due to MSK which leads to delayed diagnosis and management of this condition.

Case presentation

A 52-year-old man from rural background presented to urology outpatients department in August, 2017 with illness of the thinning of urinary stream and straining for last 5 years. He also had the problem of loss of appetite, nausea, weakness, swelling over feet and ankles and decreased urine output for last 6 months. There was no history of jaundice, melena, haematemesis, haematuria, fever and pruritus. In history, he revealed that he visited to a PHC 5 years ago for voiding lower urinary tract symptoms associated with whitening of preputial skin and glans penis. He also had some symptoms of chronic renal disease like weakness, fatigue, nausea and loss of appetite. Diagnosis of lichen sclerosus et atrophicus was made on clinical background. He underwent multiple co-axial dilatations at frequent interval at the PHC for meatal stenosis with intermittent relief of symptoms. However, he never underwent any further investigations for Chronic kidney disease, as no other associated disease was kept in mind for his symptoms and signs.

General physical and systemic examination showed raised blood pressure (156/98 mm Hg) with pallor with bilateral pedal oedema with mild hepatosplenomegaly. Examination of the penis revealed meatal stenosis with whitening patch involving foreskin and under surface of penis along with preputial scarring (figure 1).

Figure 1

Clinical image showing meatal stenosis and preputial scarring with whitening patch involving foreskin and under surface of penis.

Laboratory investigations revealed raised erythrocyte sedimentation rate—25 mm during the first hour, anaemia with normal blood cell counts (Hb: 8.3 g/dL, leucocyte count: 8.5×109/L, platelet count: 260×109/L), deranged renal function tests (blood urea: 1458 mg/dL, serum creatinine: 7.3 mg/dL), serum uric acid: 6.8 mg/dL, serum electrolytes (Na: 129 mEq/L, K: 5.6 mEq/L), total bilirubin: 0.7 mg/dL, alanine aminotransferase: 42 U/L, aspartate aminotransferase: 22 U/L and alkaline phosphatase: 101 U/L. Autoimmune antibodies and immunological parameters (rheumatoid factor, antinuclear antibody, C3, C4, HLA-B27, anticardiolipin antibody, HIV ELISA, Hep B antigen and anti HCV antibody) were within normal limits.

Urinalysis revealed 15–20 pus cells and 4–5 red blood cells per high power field with proteinuria (1+). The hypercalciuria (24 hours urinary calcium: 160 mg/24 hours) and hypocitraluria (24 hours urine citrate: 1.5 mmol/24 hours) were also noted. Urine culture was positive for Escherichia coli for which appropriate oral antibiotic therapy was given. Uroflowmetry revealed poor urinary flow pattern (peak flow: 9 mL/s, average flow: 6 mL/s). Retrograde urethrogram was performed which showed meatal stenosis with long-segment penile urethra (figure 2). Micturating cystourethrogram showed normal posterior urethra.

Figure 2

Retrograde urethrogram (RGU) showing meatal stenosis with long-segment penile urethral stricture.

Investigations

Further ultrasound of abdomen was asked which revealed surprising finding of multiple diffuse cystic/fusiform intrahepatic biliary duct (IHBD) dilatations of both lobes with bilateral small echogenic kidneys with nephrocalcinosis. Further evaluation with non-contrast CT scan was suggestive of bilateral small kidneys with medullary nephrocalcinosis with dilated diffuse intrahepatic biliary radical dilatation with normal extrahepatic ducts consistent with MSK with CD as shown in figure 3. MR cholangiopancreatography (MRCP) was done after gastroenterology consultation, which showed multiple cystic dilatation of the intrahepatic duct with ‘central dot’ sign with normal extrahepatic biliary system (figure 4).

Figure 3

Non-contrast CT abdomen showing bilateral small kidneys with medullary nephrocalcinosis with diffuse intrahepatic biliary radicle dilatations (IHBRD) with normal extrahepatic ducts.

Figure 4

MR cholangiopancreatography showing multiple cystic dilatation of the intrahepatic duct with ‘central dot’ sign with normal extrahepatic biliary system.

Treatment

Nephrology consultation was taken for end stage renal disease and he was kept on medications including thiazide, oral potassium citrate, anti-hypertensives and maintenance haemodialysis. After proper counselling and consent, he underwent dorsal meatotomy with dorsal onlay buccal mucosa graft urethroplasty with 14 French Foley catheter placement under general anaesthesia. Postoperative period was uneventful. Catheter was removed at 3 weeks after surgery.

Outcome and follow-up

At 3 months follow-up, he was voiding well with a good stream (peak flow >15 mL/s, average flow: 11 mL/s, post void residue <50 mL) with well-controlled hypertension. Patient was not willing to undergo renal transplantation at present due to renal donor and financial related issues and was advised to remain in follow-up.

Discussion

CD is a rare congenital disorder with complex autosomal recessive inheritance. It was first described in 1958 by Caroli et al.1 The estimated incidence is extremely low with approximately 1 in 1 000 000 population.2 The presentation usually occurs in childhood or adolescence age group, but rarely may present after 40 years of age like in our case. Their clinical presentation of CD depends on the age of onset and the predominance of hepatic or renal involvement. It is characterised by multifocal segmental cystic or saccular dilatation of IHBD and may involve the entire liver, single lobe or a single segment.3 4

The CD has been classified into two types. Type I (simple CD), consists of pure cystic dilatations of the intrahepatic bile ducts, whereas type II (complex CD or Caroli’s syndrome) is associated with congenital hepatic fibrosis, portal hypertension or cirrhosis.5 6 Caroli’s syndrome may be associated or complicated with cholangiocarcinoma, cholangitis, intrahepatic duct calculi, pancreatic cyst, renal cystic disease or MSK.2 7 Recurrent cholangitis is the main cause of morbidity and mortality in these patients.

Renal anomalies which may be associated with CD include MSK, cortical cysts, adult recessive polycystic kidney disease, and rarely autosomal dominant polycystic kidney disease.8 9 Exact incidence of MSK in patients of CD is not known. There are only a handful of reported cases of this association in literature. Zhong-Xia Wang et al 10 in a observational study of 30 patients of Caroli’ disease found that MSK was seen in one (3.3%) patient only. CD is uually inherited in autosomal recessive or less commonly in autosomal dominant pattern while MSK is a sporadic disorder.

MSK may manifest with nephrocalcinosis (mostly calcium oxalate), renal acidification and concentration defects, urinary tract infection and chronic pyelonephritis. The clinical course of MSK is usually benign and most patients are asymptomatic. The most common presenting symptoms include haematuria, renal colic, fever or chronic renal insufficiency (CRI).11–13 It rarely progress to CRF and reported incidence is about 10%.13

The association/coincidence of lichen sclerosus et atrophicus with CD/MSK is never reported in literature. In our case, he was first presented to PHC for meatal stenosis with urethral stricture disease but he was never evaluated for underlying CRI, MSK and CD. The association of CD, urethral stricture and CRI is unusual and may be incidental. There is no cause-and-effect relationship. Patients with urethral stricture disease with chronic renal insufficiency symptoms/signs should be evaluated with renal function test, ultrasonography abdomen at presentation.

Learning points

  • Caroli’s disease is a rare congenital disorder and characterised by intrahepatic biliary radicle dilatations (IHBRD) with normal extrahepatic bile ducts.

  • Caroli’s disease may be rarely associated with medullary sponge kidney, nephrocalcinosis and chronic renal insufficiency (CRI).

  • The association of Caroli’s disease, urethral stricture and CRI is unusual and may be incidental. There is no cause-and-effect relationship.

  • Thorough clinical evaluation and appropriate investigations are paramount in urethral stricture with underlying CRI to avoid delayed diagnosis and appropriate management.

References

Footnotes

  • Contributors AS conceived the case report. RJS, AS and SP were major contributors towards writing the manuscript. RJS, AS and VJS treated the patient and also interpreted the patient data. RJS, AS and SP were involved in the review and critical analysis. All authors read and approved the final manuscript.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Patient consent Obtained.

  • Provenance and peer review Not commissioned; externally peer reviewed.