MICRO
KIDNEY.pptx

Autosomal dominant polycystic kidney disease symptoms

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AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE - SYMPTOMS DEVELOP BETWEEN THE AGES OF 30-40 THEREFORE IT IS CALLED ADULT POLYCYSTIC KIDNEY DISEASE. IT IS THE MOST COMMON INHERITED FORM OF THE DISEASE. 204
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ABOUT 90% OF ALL POLYCYSTIC KIDNEY CASES ARE AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE. AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE:- IT IS A RARE INHERITED FORM. SYMPTOMS OF AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY BEGIN IN THE EARLIEST MONTH OF LIFE EVEN IN THE WOMB. 205
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CHROMOSOMES INVOLVED IN ADULT POLYCYSTIC KIDNEY DISEASE (APKD) - (PGI JUNE 01) A) 6&11 B) 4& 16 C) 7 & 17 D) 4& 12 206
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ADULT POLYCYSTIC KIDNEY DISEASE IS A HEREDITARY DISORDER CHARACTERIZED BY MULTIPLE EXPANDING CYSTS OF BOTH KIDNEYS. IMPORTANT POINTS ABOUT INHERITANCE OF AUTOSOMAL DOMINANT POLYCYSTIC DISEASE:- PATTERN OF INHERITANCE  AUTOSOMAL DOMINANT WITH HIGH PENETRANCE. CAUSED DUE TO MUTATION  PKDI AND PKD2. 207
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PROTEIN ENCODED BY GENE POLYCYSTIN -1 PKD 1 PROTEIN ENCODED BY GENE  POLYCYSTIN - 2 PKD 2 PKD1 IS LOCATED ON CHROMOSOME 16. PKD2 IS LOCATED ON CHROMOSOME 4 . 208
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CHROMOSOMES INVOLVED IN ADULT POLYCYSTIC KIDNEYDISEASE (APKD) - (PGI JUNE 01) A) 6&11 B) 4& 16 C) 7 & 17 D) 4& 12 ANS. IS ‘B’ I.E., 4 & 16: [REF. ROBBIN’S 7H/EP. 962, 963; HARRISON 18,H/EP.2355; 17H/EP. 1497] 209
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IN ADULT POLYCYSTIC KIDNEY, ALL ARE TRUE EXCEPT A) HYPERTENSION IS RARE (AIIMS MAY 01) B) HEMATURIA IS A COMMON SYMPTOM C) CYSTS ARE SEEN IN LIVER SPLEEN AND PANCREAS D) AUTOSOMAL DOMINANT TRANSMISSION IS SEEN 210
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PATHOLOGY:- BOTH THE KIDNEY ARE GROSSLY ENLARGED. MULTIPLE CYSTS COVER THE SURFACE OF THE KIDNEY. THE CYSTS CONTAIN STRAW COLOURED FLUID THAT MAY BECOME HEMORRHAGIC. THE CYSTS ARE DISTRIBUTED EVENLY THROUGHOUT THE CORTEX AND MEDULLA. (CYSTS CAN ALSO OCCCUR IN EXTRARENAL LOCATIONS SUCH AS SPLEEN LIVER). 211
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CLINICAL FEATURES: CHRONIC FLANK PAIN D/T MASS EFFECT OF KIDNEY. ACUTE ABDOMINAL PAIN INDICATES THE PRESENCE OF URINARY TRACT INFECTION. GROSS AND MICROSCOPIC HEMATURIA IS COMMON. URINARY TRACT INFECTION IS COMMON AND MAY INVOLVE THE BLADDER OR THE RENAL INTERSTITIUM (PYELONEPHRITIS) OR INFECT A CYST (PYOCYST). 212
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NEPHROLITHIASIS OCCURS IN 15-20% OF THE PATIENTS. HYPERTENSION IS FOUND IN 20% TO 30% OF CHILDREN AND UP TO 75%> OF ADULTS. (IT IS SECONDARY TO INTRARENAL ISCHEMIA FROM DISTORTION OF THE RENAL ARCHITECTURE). PROGRESSIVE DECLINE IN RENAL FUNCTION IS COMMON WITH ~ 50% OF PATIENTS DEVELOPING ESRD BY AGE 60. 213
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IN ADULT POLYCYSTIC KIDNEY, ALL ARE TRUE EXCEPT - A) HYPERTENSION IS RARE (AIIMS MAY 01) B) HEMATURIA IS A COMMON SYMPTOM C) CYSTS ARE SEEN IN LIVER SPLEEN AND PANCREAS D) AUTOSOMAL DOMINANT TRANSMISSION IS SEEN ANS. IS ‘A’ I.E., HYPERTENSION IS RARE [ REF. HARRISON 18'VE P.2355, 2356, 2358; 17H/E P. 1797-1798] 214
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WHICH OF THE FOLLOWING IS ASSOCIATED WITH ADULT POLYCYSTIC KIDNEY DISEASE - (AIIMS NOV 01) A) BERRY ANEURYSMS IN CIRCLE OF WILLIS B) SACCULAR ANEURYSMS OF AORTA C) FUSIFORM ANEURYSMS OF AORTA D) LEUTIC ANEURYSMS 215
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