A case of Autosomal Dominant Polycystic Kidney disease with cyst infection

autosomal dominant polycystic kidney disease is a rare genetic disorder which is associated with many other diseases.

1. A 47-year-old female with abdominal pain and fever Presented by Dr. Sanjida Afrin MD( P hase A) , Nephrology Green unit NIKDU

2. Particulars of the Patient Name                         : Mrs. Josna Begum Age                             : 47 year Sex                              : Female Marital status : Married Occupation                 : House wife Address                        : Fatullah , Narayanganj Date of admission      : 24.04.24 Date of examination : 29.04.24

3. Presenting complaints Abdominal pain for 10 days Fever for same duration Generalized swelling for 7 days

4. History of Present illness According to the statement of the patient she was in her usual state of health 10 days back. Then she developed pain in the right flank which is insidious in onset, gradually progressive, dull aching in nature, increased with physical activity and partially relieved by taking analgesics. She also complains of high grade intermittent fever for the same duration, with highest recorded temperature being 103°F. Fever is associated with chills and rigors and subsided by taking anti pyretics . It is not associated with any night sweat.

5. In last 7 days she developed generalized swelling which is painless, first appearing in the face then gradually involving other parts of the body. She also complains of gradual decline of urine output during this period which is about 500mL in amount , froathy in nature but not mixed with blood or passage of any urinary debris. There is no history of lower abdominal pain, burning sensation during micturition, urgency, frequency , incontinence or incomplete evacuation of urine. She also suffered from anorexia, nausea and occasional vomiting during this period. History of Present illness (Contd.)

6. No history of yellow discoloration of skin, sclera, mucous membrane,alteration of bowel habit, chest pain, palpitation, exertional dyspnea , shortness of breath while lying flat or at night time ,cough ,haemoptysis, headache, visual disturbance, unconsciousness. History of Present illness (Contd.)

7. History of Present illness (Contd.) On query patient gives history of occasional abdominal heaviness and discomfort for the past 03 years and previous history of physician consultations several times for recurrent generalized swelling in past 1.5 years , during which she was told to have a kidney disease which she couldn’t mention. Patient is hypertensive for last three years and her blood pressure is well controlled with medications.

8. History of past illness There is no history of significant past illness.

9. Drug History Patient is taking regular medications for hypertension and occasionally for generalized swelling which she could not mention. There is no history of taking any nephrotoxic and herbal medication.

10. Family History There is no history of similar kind of illness among her family members.

11. Personal History Non-smoker Non-alcoholic No history of IV drug abuse or previous blood transfusion.

12. Socio-economic History Patient comes from a lower middle class socio economic background.

13. Immunization History Sh e is not fully immunized as per Adult vaccination schedule. She r eceived 2 doses of COVID-19 vaccination.

14. Menstrual History Patient is menopausal for past 2 years.

15. General Examination A ppearance    : looks ill.                          Body built       : Below average   Decubitus         : On choice                        Anaemia         : Present             Oedema :  Present, pitting in nature. Jaundice          : Absent Cyanosis         : Absent JVP                   : not raised Clubbing          : Absent  Koilonychia       :Absent                             Lymph nodes   : Not palpable

16. General Examination Pulse: 102 bpm BP:  130/80  mm of Hg   (No postural drop) Respiratory rate: 16 / min Temperature : 100° F Dehydration: Absent There is an IV cannula in situ over right forearm Bed side urine dipstick test: Protein  - ++ RBC - NIL

17. Alimentary System Oral cavity- lips , gum , teeth, tongue and palate are normal. On inspection -Abdomen is distended, flanks are full, umbilicus centrally placed, inverted, no distended veins, scar mark, visible pulsation or peristalsis. On Palpation, deep tenderness present in right lumber region. Both the kidneys are ballotable, Right kidney slightly larger than left kidney, firm in consistency, surface is nodular , possible to get over the masses and moves above downwards with respiration. No renal angle tenderness is present. The overlying percussion note is resonant .

18. Alimentary System (cont.) Liver is enlarged 6 cm from the right costal margin along the mid clavicular line , firm in consistency, surface is nodular ,moves with respiration. Upper border of liver dullness is present is right fifth intercostal space. On percussion -shifting dullness is present. On auscultation - Bowel sound is present but no hepatic or renal bruit. Suprapubic region is not full, non tender.

19. Examination of Other Systems Cardiovascular, respiratory , nervous, musculoskeletal system and Ophthalmoscopic examination revealed no significant abnormality.

20. Salient Features Mrs. Josna Begum , 47 year old, housewife, hypertensive, non-diabetic hailing from Fatullah , narayanganz got admitted into NIKDU on 24.04.24 with the complaints of pain in right flank which is insidious in onset, gradually progressive, dull aching in nature, increased with physical activity and partially relieved by analgesics. She also complains of high grade intermittent fever, associated with chills and rigor for same duration which subsides by taking antipyretic.

21. Salient Features (Contd.) On query she gave history of recurrent generalized swelling for past 1.5 years , which reappeared in last 7 days , first involving the face and then gradually other parts of the body. Swelling is associated with gradual decline of urine output which is about 500mL , froathy in nature, not associated with haematuria,passage of any urinary debris, lower abdominal pain, burning sensation during micturition, frequency and urgency. She also mentions of anorexia, nausea and occasional vomiting for same duration.  

22. Salient Features (Contd.) On general examination  patient  looks ill, mildly anemic, oedematous , non-icteric, Pulse 102 b/m, blood pressure 130/80 mmHg with no postural drop, Respiratory rate 16 breaths/min, there is an IV cannula in situ on right forearm. Bedside urine examination reveals  protein ++ and  RBC- Nil.

23. Salient Features(Contd.) Per abdominal examination, ascites is present. Both the kidneys are ballotable, Right kidney slightly larger than left kidney, firm in consistency, surface is nodular , possible to get over the masses and moves above downward with respiration. Liver is enlarged 6 cm from the right costal margin along the mid clavicular line , firm on consistency, surface is nodular ,moves with respiration. There is no hepatic bruit. Other system examination reveals no abnormality.

24. Provisional Diagnosis

25. Chronic Kidney Disease due to Autosomal Dominant Polycystic Kidney Disease with Cyst infection Provisional Diagnosis

26. Bilateral Hydronephrosis with CKD with Hypertension CKD due to ADPKD with acute pyelonephritis CKD due to ADPKD with renal stone Differential diagnosis

27. Investigations

28. Urine R/M/E Date Albumin Pus cell RBC Epithelial Cells Cast 18.04.2024 ++ 2-3/HPF Nil 2-4/ HPF Nill 25.04.2023 ++ 3-4/ HPF Nil 1-2/ HPF Nill

29. Complete Blood Count (Contd.) Date 18.04.2024 25.04.2024 Hb (g/dl) 8.6 gm/dl 8.2gm/dl ESR 52 mm  in 1 st hour 84 mm in 1 st hour WBC   13780/ cu mm  14490/ cu mm Neutrophil : 88 % Lymphocyte: 02% Monocyte :04% N: 90% L : 03% M: 02% Platelets 1,30,000/ cu mm 1,10,000/ cu mm

30. Date S . Creatinine   (mg / dL) S . Urea   (mg / dL) 18.04.24 6.38 25.04.24 5.6 110

31. Serum Electrolytes 18.04.24 24.04.2024 Na ( mmol /L) K ( mmol /L) Cl ( mmol /L) CO2 ( mmol /L) 132 3.6 102.2 23.2 136 4.2 100 15 Serum Electrolytes

32. Date 25.04.24 S. Calcium 7.6 mg/dl 4.4 mg/dl 7.6 mg/dl S. PO4 Uric acid Date 28.01.23 Serum C3 0.25 mg/dl Serum C4 0.067 mg/dl

33. USG whole abdomen on 25. 04.24

34. USG Of Whole Abdomen

35. Plain Xray KUB 27.04.24

36. Chest Xray P/A view 24.04.24

37. Final Diagnosis

38. CKD due to ADPKD due to Cyst Infection

39. THANK YOU