Multicystic Renal Dysplasia, Bilateral

Alternative Names

  • MCRD
  • Pelviureteric Junction Obstruction
  • PUJO
  • Hydronephrosis due to PUJO
  • Ureteropelvic Junction Obstruction
  • UPJO
  • Congenital anomalies of kidney and urinary tract 2
  • CAKUT2
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations of the urinary system

OMIM Number

143400

Mode of Inheritance

Autosomal dominant

Gene Map Locus

6q14.3

Description

Multicystic renal dysplasia is a congenital dysplasia of the kidney characterized by large nonhomogeneous dilations of the collecting tubules. The dysplasias are usually unilateral, but it can be bilateral, segmental or focal, and the incidence is about 1 out of 5,000 to 10,000 births. There is a male predominance (ratio M2.4/F1) but females are twice as likely to have bilateral multicystic dysplastic kidney disease and associated non-renal abnormalities. Severe bilateral defects are lethal. Partial dysplastic involvement of both kidneys eventually leads to renal function impairment.

Mutations in TBX18 gene present on the long arm of chromosome 6 is known to be associated with multicystic renal dysplasia. A chromosome 19 breakpoint has also been observed in some patients with bilateral multicystic renal dysplasia, appearing to have occurred in intron 7 of the USF2 gene.

Molecular Genetics

Mutations in TBX18 gene present on the long arm of chromosome 6 is known to be associated with multicystic renal dysplasia. A chromosome 19 breakpoint has also been observed in some patients with bilateral multicystic renal dysplasia, appearing to have occurred in intron 7 of the USF2 gene.

Epidemiology in the Arab World

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Other Reports

Bahrain

Amin and Hameed (1984) reviewed 23 patients (18 males, 5 females) who had undergone surgery for congenital hydronephrosis. Most of the patients were adults, and the most common clinical presentation in them was loin pain. The younger patients presented with occasional loin pain, pyrexia and hematuria. Of these patients, 11 had a PUJO on the right side, whereas the remaining were obstructed on the left side. Only one patient showed bilateral obstruction. Amin and Hameed (1984) considered the Anderson Hynes pyeloplasty to be an effective surgical method, and performed the procedure on 18 of the patients. The remaining patients were managed using Culp-Deweerd-Scardino plasty, Y-V Foley plasty, or uretrolysis. At the time of the review, 22 patients continued to be symptom free.

[Amin E, Hameed T. Retrospective study on 23 cases of congenital hydronephrosis. Bahrain Med Bull. 1984; 6(3):105-8.]

Oman

Fernandes et al. (1998) presented a six week-old-boy with bilateral emphysematous pyelonephritis and cystitis secondary to bilateral peviureteric junction obstruction. He presented with fever, failure to thrive, abdominal distension, and loose stools with non bilious vomiting. He was found to be dehydrated and febrile with the left kidney palpable, and mild hepatomegaly was felt. Investigations revealed hyponatremia (125mmol/l), hyperkalemia (6.5mmol/l), urea of 9.4mmol/l, creatinine of 53mmol/l, and bicarbonate of 15mmol/l. On ultrasound scan, bilateral renal pelvises were dilated with highly reflective echoes in both kidneys (persistent with gas). IVU showed bilateral dilatation of the pelvicalyceal systems with gas bubbles in the renal collecting system and the bladder wall which was also noticed on a plain abdominal X-ray. Posterior urethral valves and vesico-ureteric reflux were excluded by a cystourethrogram, and a DTPA renogram detected features of bilateral pelviureteric junction obstruction. Anderson-Hynes pyeloplasty was done on the right side five weeks after admission, and then four weeks later, on the left side. On follow up, he was thriving well, with no further attacks of urinary infection, and a repeat IVU after one year showed mild hydronephrosis with no signs of obstruction.

Qatar

Akl and Zayyoud (1983) reviewed the medical records of 83 children who presented with renal disorders in Qatar during a single year period. Three of these patients were diagnosed with uretero-pelvic junction obstruction. [Akl K, Zayyoud M. The spectrum of childhood kidney disease in Qatar. Qatar Med J. 1983; 4(2):95-7.]

Ehlayel and Akl (1992) reviewed the records of all patients in Qatar diagnosed with chronic renal failure between the years 1982 and 1990. Of the total of 30 such cases, four patients were found to have been diagnosed with PUJO.

United Arab Emirates

Abou-Chaaban et al. (1997) studied the pattern of pediatric renal diseases among children in the Dubai Emirate during the period from 1991 to 1996. In this period, a total of 712 pediatric patients, including 230 nationals of the United Arab Emirates, were seen with various renal problems. Among the patients with congenital renal anomalies, Abou-Chaaban et al. (1997) observed 12 subjects with pelviureteric junction obstruction. [Abou-Chaaban M, Al Murbatty B, Abdul Majid M. Spectrum of pediatric renal diseases in Dubai. Saudi J Kidney Dis Transplant. 1997; 8(3):310-3.]

Al Talabani et al. (1998) studied the pattern of major congenital malformations in 24,233 consecutive live and stillbirth at Corniche hospital, which is the only maternity hospital in Abu Dhabi, between January 1992 and January 1995. A total of 401 babies (16.6/1,000), including 289 Arabs, were seen with major malformation. Sporadic conditions accounted for 26% of the cases. In their study, Al Talabani et al. (1998) observed 15 cases of uni- or bilateral hydronephrosis born to non-related parents from the United Arab Emirates. No recurrence was reported in the family. Al Talabani et al. (1998) concluded that their study was very close to representing the true incidence of congenital abnormalities overall in the United Arab Emirates, as they investigated over 98% of deliveries in Abu Dhabi, the capital of United Arab Emirates.

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