a case of tuberous sclerosis with cystic kidney

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/ 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

Family history: nothing significant

O/E: conscious oriented afebrile pallor+, BPPE + adenoma sebaceum+ shagreen patches + I0 Cy0 Cl0 L0 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- 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

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.Lymphangioleiomyomatosis11.Renal angiomyolipoma

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

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 >1/4th 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

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

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