ESPN 51th Annual Meeting

ESPN 2018


 
Polycystic kidney disease (PKD) of early childhood due to PKD1/TSC2 contiguous gene deletion syndrome, PKD with tuberous sclerosis complex
MUSTAFA CEM BÜLBÜL 1 MEHMET TAŞDEMIR 2 SERPIL ERASLAN 3 SEDA OCAK 1 HÜLYA KAYSERILI 3 ILMAY BILGE 2

1- DEPARTMENT OF PEDIATRICS, KOÇ UNIVERSITY SCHOOL OF MEDICINE, ISTANBUL, TURKEY
2- DIVISION OF PEDIATRIC NEPHROLOGY, DEPARTMENT OF PEDIATRICS, KOÇ UNIVERSITY SCHOOL OF MEDICINE, ISTANBUL, TURKEY
3- DEPARTMENT OF MEDICAL GENETICS, KOÇ UNIVERSITY SCHOOL OF MEDICINE, ISTANBUL, TURKEY
 
Introduction:

 There are a number of individuals affected with early-onset autosomal dominant polycystic kidney disease (ADPKD).   Tuberous sclerosis complex (TSC) is a neuro-cutaneous, autosomal dominantly inherited multi-system disease with phenotypic variability. Although ADPKD and TSC are two distinct genetic disorders, the association between these two clinical entities has been reported and was named as PKD1/TSC2 contiguous gene deletion syndrome.

 

Material and methods:

 

Case

 

A 4-year-old boy born to non-consanguineous parents presented with abdominal pain. On examination, his weight and height were 17.1 kg (65.5 percentile) and 110 cm (94.5 percentile), respectively. Blood pressure was 130/70 mmHg when agitated, more than five nevi and also several hypo-pigmented macules, largest being 2x1 cm were identified, the kidneys were non-palpable. Complete blood count, the levels of blood urea nitrogen, serum creatinine, serum electrolytes and liver enzymes were all normal. Urinalysis did not show any abnormalities and urine culture was sterile. An abdominal ultrasonography (US) showed normal sized kidneys with bilateral multiple cysts, largest one 4.8x3.2 mm, and micro-calculi. Renal-pelvic ultrasonography did not show any changes suggestive for a familial inheritance of cystic kidney disease. Panel testing for renal cystic diseases revealed normal sequencing data.  Multiplex ligation-dependent probe amplification (MLPA) analysis for PKD1 and PKD2 revealed a whole gene deletion of PKD1 and neighboring TSC2 gene confirming the diagnosis of contiguous gene deletion syndrome.  

Results:

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Conclusions:

A PKD1/TSC2 contiguous gene deletion syndrome can manifest with renal cysts along with dermatological findings in infancy or early childhood. Since prognosis can be worse in these patients, early detection and screening for other manifestations can prevent disease progression and deterioration.