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A Case of Tuberous Sclerosis with Cystic Kidney
 

A Case of Tuberous Sclerosis with Cystic Kidney

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    A Case of Tuberous Sclerosis with Cystic Kidney A Case of Tuberous Sclerosis with Cystic Kidney Presentation Transcript

    •  
      • A 29 yr old female came with
      • pedal edema- 10days,
      • breathlessness for 1 day
      • H/O presenting complaint:
      • Pt was apparently normal till 10 days ago when she developed pedal edema, gradually progressive over the past 10 days
      • h/o breathlessness – 1 day, was present at rest
      • h/o orthopnea,
      • No h/o PND
      • No h/o chest pain/ palpitations
      • No h/o cough with expectoration
      • No h/o facial puffiness
      • No h/o oliguria, dysuria or hemturia
      • No h/o jaundice
      • No h/o fever
      • Past history:
      • diagnosed as hypertensive 2 months ago, nit on any treatment
      • no h/o DM / TB/ BA
      • Personal history:
      • sleep & appetite – normal
      • bowel & bladder habits- regular
      • Family history:
      • nothing significant
      • O/E:
      • conscious
      • oriented
      • afebrile
      • pallor+, BPPE +
      • adenoma sebaceum+
      • shagreen patches +
      • I 0 Cy 0 Cl 0 L 0
      • dyspneic , tachypneic
    • SHAGREEN PATCHES ADENOMA SEBACEUM
    •  
      • vitals:
      • pulse: 86/min regular
      • BP: 170/100 mm Hg
      • CVS: S1S2 heard
      • no murmurs
      • RS: NVBS heard
      • B/L basal creps +
      • P/A: soft, no FF, no organomegaly
      • CNS: no FND
    • Hb 8.3 gm/dl TC , DC 4,000 cells/ cu mm, P68 L31 E1 ESR 20/40 platelets 1.7 lakhs/ cu mm RBS 100 mg/dl Urea 120 mg/dl creatinine 6.5 mg/dl Urine routine normal
    • Na 135 mEq/L K 3.5 mEq/l Cl 100 m Eq/l HCO3 20 m Eq/l Peripheral smear Microcytic hypochromic anemia 24 hr urine protein 230 mg ANA negative
      • USG ABDOMEN:
      • Liver- normal
      • RK- 9.0* 3.2 cm,
      • LK- 9.2* 3.2 cms,
      • Multiple cysts present over both kidneys predominantly cortical in distribution
      • RK: largest cyst measures 3* 1.5 cms, an atypical cyst measuring 2.7 * 1.1 cm present in the midpole region
      • LK: largest cyst measures 2.2 * 1.1 cms
      • CMD altered
    •  
    •  
      • TUBEROUS SCLEROSIS
      • WITH CYSTIC KINDEY
      • Disorder of cellular proliferation and differentiation;
      • Autosomal dominant with variable penetrance ;
      • Prevalence 1 in 6000 – 9000;
      • TSC 1 – Chr 9 – tuberin
      • TSC 2 – Chr 16 – hamartin
      • both play a part in the m TOR signalling pathway
      • Major criteria
      • 1.Facial angiofibroma/
      • forehead plaque
      • 2.Non traumatic ungual /periungual fibroma
      • 3.>3 hypomelanotic macules ;
      • 4.Shagreen patches
      • 5.Multiple retinal nodular hamartoma
      • 6.Cortical tuber
      • 7.Subependymal nodules
      • 8.Subependymal giant cell astrocytoma
      • 9.Cardiac rhabdomyoma
      • 10.Lymphangioleiomyomatosis
      • 11.Renal angiomyolipoma
      • Minor criteria
      • 1.Multiple random pits in enamel;
      • 2.Hamartomatous rectal polyp
      • 3.Bone cysts ;
      • 4.Cerebral white matter radial migration lines
      • 5.Gingival fibromas
      • 6.Non renal hamartomas ;
      • 7.Retinal achromic patch ;
      • 8.Confetti skin lesions ;
      • 9.Multiple renal cysts
      • For diagnosis
      • definite - either 2 major (or) 1 major +
      • 2 minor
      • probable - 1 major + 1 minor
      • possible – 1 major (or) 2 or > minor
      • SKIN :
      • hypomelanotic macules ;- ash leaf macules /confetti lesions
      • adenoma sebaceoum – ¾ th of patients have ;
      • not present at birth ;
      • increase with age
      • shagreen patch –irregular leathery raised textured skin lesion
      • seen in lumbosacral & gluteal region ;
      • ungual / priungual fibroma - considered relatively specific ;
      • seen > in toes ;
      • others :
      • gingival fibroma , enamel pits ;
      • EYE:
      • retinal tumors – mulberry lesions
      • iris coloboma,
      • iris hypomelanotic spots ;
      • cataracts ;
      • choroid ;
      • lens coloboma
      • CNS:
      • seizures , mental retardation ,behavioural disorders
      • >the no. of cortical tubers > the cognitive impairment
      • some have normal IQ
      • autistic ,aggressive ,frank psychosis
      • CT best demonstrates subependymal nodules
      • >1/4 th have cerebellar anomalies
      • SEGA – subependymal giant cell astrocytoma -6-14%
      • these can enlarge & increase ICP ;
      • CVS:
      • rhabdomyomas; can be prenatally diagnosed ;
      • regresses with time ;
      • LUNG:
      • almost exclusively seen in women ;
      • Lymphangioleiomyomatosis;
      • pulmonary cysts /pneumothorax/pleurisy
      • die within 5 yrs
      • Other :
      • cystic rarefaction of phalanx,metacarpals,
      • long bone
      • sclerotic areas
      • RENAL :
      • angimyolipomas; cystic lesions ;
      • combination of the above 2 is relatively
      • specific
      • Kidney involvement occurs frequently in TSC;
      • renal lesions in 57% of TSC patients.
      • angiomyolipomas (85%), cysts(45%), and renal malignant neoplasms (4%).
      • interstitial fibrosis with focal segmental glomerulosclerosis (FSGS),
      • glomerular microhamartomas, and
      • peripelvic and perirenal lymphangiomatous cysts
      • Renal complications are the most frequent cause of
      • death in TSC
      • hamartomatous structures composed of abnormal, thick-walled vessels and varying amounts of smooth muscle–like cells and adipose tissue
      • the most common renal lesion in TSC patients, evident in ~80% of TSC patients by age 10 years
      • Angiomyolipomas rarely occur before 5 years of age but increase in frequency and size with age .
      • Clinical manifestations are due to hemorrhage or mass effects
      • More common in women
      • Renal cysts occur less frequently than angiomyolipoma (47% versus 80%)
      • renal cysts tend to increase in size and number over time
      • concurrence of cysts and angiomyolipomas, easily detected by CT, is strongly suggestive of TSC.
      • Mostly cortical in distribution, can be glomerular also
      • The epithelial lining of the cysts is distinctive and appears to be unique to TSC, with large and acidophilic epithelia containing large hyperchromatic nuclei with occasional mitotic figures
      • Life time risk- 2%
      • Clear cell RCC most common
    •  
    •  
      • THANK
      • YOU