![Page 1: A Case of Tuberous Sclerosis with Cystic Kidney](https://reader035.vdocuments.us/reader035/viewer/2022081505/554b5cc0b4c9051b458b4e7f/html5/thumbnails/1.jpg)
![Page 2: A Case of Tuberous Sclerosis with Cystic Kidney](https://reader035.vdocuments.us/reader035/viewer/2022081505/554b5cc0b4c9051b458b4e7f/html5/thumbnails/2.jpg)
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
![Page 3: A Case of Tuberous Sclerosis with Cystic Kidney](https://reader035.vdocuments.us/reader035/viewer/2022081505/554b5cc0b4c9051b458b4e7f/html5/thumbnails/3.jpg)
No h/o chest pain/ palpitationsNo h/o cough with expectorationNo h/o facial puffinessNo h/o oliguria, dysuria or hemturiaNo h/o jaundiceNo h/o feverPast history: diagnosed as hypertensive 2 months ago, nit on any treatment no h/o DM / TB/ BAPersonal history: sleep & appetite – normal bowel & bladder habits- regular
![Page 4: A Case of Tuberous Sclerosis with Cystic Kidney](https://reader035.vdocuments.us/reader035/viewer/2022081505/554b5cc0b4c9051b458b4e7f/html5/thumbnails/4.jpg)
Family history: nothing significant
O/E: conscious oriented afebrile pallor+, BPPE + adenoma sebaceum+ shagreen patches + I0 Cy0 Cl0 L0 dyspneic , tachypneic
![Page 5: A Case of Tuberous Sclerosis with Cystic Kidney](https://reader035.vdocuments.us/reader035/viewer/2022081505/554b5cc0b4c9051b458b4e7f/html5/thumbnails/5.jpg)
SHAGREEN PATCHES
ADENOMA SEBACEUM
![Page 6: A Case of Tuberous Sclerosis with Cystic Kidney](https://reader035.vdocuments.us/reader035/viewer/2022081505/554b5cc0b4c9051b458b4e7f/html5/thumbnails/6.jpg)
![Page 7: A Case of Tuberous Sclerosis with Cystic Kidney](https://reader035.vdocuments.us/reader035/viewer/2022081505/554b5cc0b4c9051b458b4e7f/html5/thumbnails/7.jpg)
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
![Page 8: A Case of Tuberous Sclerosis with Cystic Kidney](https://reader035.vdocuments.us/reader035/viewer/2022081505/554b5cc0b4c9051b458b4e7f/html5/thumbnails/8.jpg)
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
![Page 9: A Case of Tuberous Sclerosis with Cystic Kidney](https://reader035.vdocuments.us/reader035/viewer/2022081505/554b5cc0b4c9051b458b4e7f/html5/thumbnails/9.jpg)
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
![Page 10: A Case of Tuberous Sclerosis with Cystic Kidney](https://reader035.vdocuments.us/reader035/viewer/2022081505/554b5cc0b4c9051b458b4e7f/html5/thumbnails/10.jpg)
USG ABDOMEN:Liver- normalRK- 9.0* 3.2 cm, LK- 9.2* 3.2 cms, Multiple cysts present over both kidneys predominantly cortical in distributionRK: largest cyst measures 3* 1.5 cms, an atypical cyst measuring 2.7 * 1.1 cm present in the midpole regionLK: largest cyst measures 2.2 * 1.1 cmsCMD altered
![Page 11: A Case of Tuberous Sclerosis with Cystic Kidney](https://reader035.vdocuments.us/reader035/viewer/2022081505/554b5cc0b4c9051b458b4e7f/html5/thumbnails/11.jpg)
![Page 12: A Case of Tuberous Sclerosis with Cystic Kidney](https://reader035.vdocuments.us/reader035/viewer/2022081505/554b5cc0b4c9051b458b4e7f/html5/thumbnails/12.jpg)
![Page 13: A Case of Tuberous Sclerosis with Cystic Kidney](https://reader035.vdocuments.us/reader035/viewer/2022081505/554b5cc0b4c9051b458b4e7f/html5/thumbnails/13.jpg)
TUBEROUS SCLEROSIS WITH CYSTIC KINDEY
![Page 14: A Case of Tuberous Sclerosis with Cystic Kidney](https://reader035.vdocuments.us/reader035/viewer/2022081505/554b5cc0b4c9051b458b4e7f/html5/thumbnails/14.jpg)
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
![Page 15: A Case of Tuberous Sclerosis with Cystic Kidney](https://reader035.vdocuments.us/reader035/viewer/2022081505/554b5cc0b4c9051b458b4e7f/html5/thumbnails/15.jpg)
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.Lymphangioleiomyomatosis11.Renal angiomyolipoma
![Page 16: A Case of Tuberous Sclerosis with Cystic Kidney](https://reader035.vdocuments.us/reader035/viewer/2022081505/554b5cc0b4c9051b458b4e7f/html5/thumbnails/16.jpg)
Minor criteria 1.Multiple random pits in enamel;2.Hamartomatous rectal polyp3.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
![Page 17: A Case of Tuberous Sclerosis with Cystic Kidney](https://reader035.vdocuments.us/reader035/viewer/2022081505/554b5cc0b4c9051b458b4e7f/html5/thumbnails/17.jpg)
For diagnosis
definite - either 2 major (or) 1 major + 2 minor
probable - 1 major + 1 minor
possible – 1 major (or) 2 or > minor
![Page 18: A Case of Tuberous Sclerosis with Cystic Kidney](https://reader035.vdocuments.us/reader035/viewer/2022081505/554b5cc0b4c9051b458b4e7f/html5/thumbnails/18.jpg)
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 ;
![Page 19: A Case of Tuberous Sclerosis with Cystic Kidney](https://reader035.vdocuments.us/reader035/viewer/2022081505/554b5cc0b4c9051b458b4e7f/html5/thumbnails/19.jpg)
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
![Page 20: A Case of Tuberous Sclerosis with Cystic Kidney](https://reader035.vdocuments.us/reader035/viewer/2022081505/554b5cc0b4c9051b458b4e7f/html5/thumbnails/20.jpg)
CT best demonstrates subependymal nodules >1/4th 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
![Page 21: A Case of Tuberous Sclerosis with Cystic Kidney](https://reader035.vdocuments.us/reader035/viewer/2022081505/554b5cc0b4c9051b458b4e7f/html5/thumbnails/21.jpg)
Other :
cystic rarefaction of phalanx,metacarpals,
long bone
sclerotic areas
RENAL :
angimyolipomas; cystic lesions ;
combination of the above 2 is relatively
specific
![Page 22: A Case of Tuberous Sclerosis with Cystic Kidney](https://reader035.vdocuments.us/reader035/viewer/2022081505/554b5cc0b4c9051b458b4e7f/html5/thumbnails/22.jpg)
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
![Page 23: A Case of Tuberous Sclerosis with Cystic Kidney](https://reader035.vdocuments.us/reader035/viewer/2022081505/554b5cc0b4c9051b458b4e7f/html5/thumbnails/23.jpg)
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
![Page 24: A Case of Tuberous Sclerosis with Cystic Kidney](https://reader035.vdocuments.us/reader035/viewer/2022081505/554b5cc0b4c9051b458b4e7f/html5/thumbnails/24.jpg)
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
![Page 25: A Case of Tuberous Sclerosis with Cystic Kidney](https://reader035.vdocuments.us/reader035/viewer/2022081505/554b5cc0b4c9051b458b4e7f/html5/thumbnails/25.jpg)
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
![Page 26: A Case of Tuberous Sclerosis with Cystic Kidney](https://reader035.vdocuments.us/reader035/viewer/2022081505/554b5cc0b4c9051b458b4e7f/html5/thumbnails/26.jpg)
Life time risk- 2% Clear cell RCC most common
![Page 27: A Case of Tuberous Sclerosis with Cystic Kidney](https://reader035.vdocuments.us/reader035/viewer/2022081505/554b5cc0b4c9051b458b4e7f/html5/thumbnails/27.jpg)
![Page 28: A Case of Tuberous Sclerosis with Cystic Kidney](https://reader035.vdocuments.us/reader035/viewer/2022081505/554b5cc0b4c9051b458b4e7f/html5/thumbnails/28.jpg)
![Page 29: A Case of Tuberous Sclerosis with Cystic Kidney](https://reader035.vdocuments.us/reader035/viewer/2022081505/554b5cc0b4c9051b458b4e7f/html5/thumbnails/29.jpg)
THANK
YOU