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Saturday, February 27, 2016

Autosomal Dominant Polycystic Kidney Disease

A 41-year-old woman with newly diagnosed hypertension reports persistent bilateral flank pain. She gives a family history of “kidney problems.” On urinalysis, she is noted to have microscopic hematuria. An ultrasound and abdominal CT scan show bilateral polycystic kidneys.


Case Discussion:

Poly Cystic Kidney Disease:

Introduction: Polycystic kidney disease (PKD) is a manifestation of a group of inherited disorders resulting in renal cyst development. In the most common form, autosomal-dominant polycystic kidney disease (ADPKD), extensive epithelial-lined cysts develop in the kidney; in some cases, abnormalities also occur in the liver, pancreas, brain, arterial blood vessels, or a combination of these sites. It is the most common tubular disorder of the kidney, affecting 1 in 300 individuals.
It is most frequently seen in the third and fourth decades of life, but can be diagnosed at any age.

Pathophysiology: ADPKD results from mutations in either of 2 genes that encode plasma membrane–spanning polycystin 1 (PKD1) and polycystin 2 (PKD2).2 Polycystins regulate tubular and vascular development in the kidneys and other organs (liver, brain, heart, and pancreas).
PKD1 and PKD2 are colocalized in primary cilia and appear to mediate Ca2+ signaling as a mechanosensor, essential for maintaining the differentiated state of epithelia lining tubules in the kidney and biliary tract. These mutations result in many abnormalities including increased proliferation and apoptosis and loss of differentiation and polarity.


Autosomal-recessive PKD (ARPKD) is the neonatal form of PKD that is associated with enlarged kidneys and biliary dysgenesis.The genetic mutation in PKHD1 (polycystic kidney hepatic disease 1)
involves a protein, fibrocystin, that is also localized to cilia/basal body and complexes with PKD2. This large, receptor-like protein is thought to be involved in the tubulogenesis and/or maintenance
of duct-lumen architecture of epithelium.

Clinical Features: include:
• Chronic flank pain as a result of the mass effect of enlarged kidneys.
• Acute pain with infection, obstruction, or hemorrhage into a cyst.
• Enlarged liver.
• Hypertension is common in adults (75%) and may be present in 10% to 30% of children.
• Kidney stones (calcium oxalate and uric acid) develop in 15% to 20% of affected individuals because of urinary stasis from distortion of the collecting system, low urine pH, and low urinary citrate.
• Nocturia may also be present from impaired renal concentrating ability.

Investigations: 
• Obtain a urinalysis to document hematuria and a complete blood count or hemoglobin to identify anemia.
• Diagnosis is often made with ultrasound. More than 80% of patients have cysts present by age 20 years and 100% by age 30 years.
• Cysts are commonly found in the liver (50% to 80%) spleen, pancreas, and ovaries.
• The diagnosis of PKD can usually be made from ultrasound characteristics, the presence or absence of extrarenal abnormalities, and screening of parents older than 40 years of age.

Differential Diagnosis:
• Simple cyst—Diagnosed at any age; few cysts seen; benign features.
• Acquired cystic disease—Diagnosed in adulthood; few to many cysts; cyst development preceded by renal failure.
• Tuberous sclerosis—Diagnosed at any age; few to many renal angiomyolipomas; inherited nonmalignant tumors grow in the skin, brain/nervous system, kidneys, and heart.

Management: The current role of therapy in Polycystic Kidney Disease is to slow the rate of progression of renal disease and minimize symptoms.

Conservative Methods;
• For episodes of gross hematuria, bed rest, analgesics, and hydration is recommended and is sufficient to increase the urinary flow rate to 2 to 3 L/day; hematuria generally declines to microscopic levels in a few days.

Medications:
• Control blood pressure to reduce the risk of associated cardiovascular disease. Angiotensin-converting enzyme inhibitors and angiotensin receptor blockers are the traditionally used agents for
patients with chronic kidney disease and hypertension.
• Treat infection as early as possible. If pyocyst is suspected, agents that penetrate cysts such as trimethoprim-sulfamethoxazole, chloramphenicol, and ciprofloxacin are used.

Need For Surgery:
•Cyst puncture and a sclerosing agent (i.e., ethanol) can be used in painful cysts.

Dialysis And transplantation: For patients with End Stage Renal Disease as a result of PKD, transplantation and dialysis are options.

2 comments:

  1. Hello, my name is Betty. i was diagnosed of HIV virus 4 years back. Before then, i was dating this Derrick guy. we had something great going on. Our love life only lasted for 8 months. the sixth and seven month of our relationship, i began feeling very weak every now and then. But i never suspected anything until I kept on experiencing different symptoms like having sore throats, constant headache, body weakness e.t.c. I decided to go for a medical check up. I was tested HIV positive. when the doctor broke the news to me, it was as if my whole world had crumbled. it dawned on me then that Derrick has been lying to me. i was very mad to an extent i almost committed suicide. But there was nothing i could do, other than weep and weep. ever since then, i have been spending heavily on medications, going from one medical clinic or the other so I can look healthy. Though since i was a kid, i love herbs a lot. i take herbal tea with grandma while growing so i am quite familiar with herbs. early last year, i was on the internet and on a particular health blog, to check for herbal medication as alternative. I saw many comments and read many testimonies. Until i came across a particular testimony on how Dr.ugo cured a patient from herpes simplex virus using pure natural herbs. i reached out to the doctor because I also was thinking Herpes had no cure. I told him about my HIV status.He encouraged me not to panic that he will help me get my deliverance. he prepared some herbs and sent them to me. The herbs were in four 70ml bottles and I took them morning and night. i used as he directed, and in less than three weeks, i started having appetite to eat plenty of food and i gained back my strength. the fourth week,I consumed all the herbal meds. He encouraged me to go for a test which i did. This time, the result was negative. I quickly contacted the doctor and informed him of the news. I immediately asked him to prepare for Derrick too. He did and sent it. Today, me and Derrick are HIV free. All thanks goes to God Almighty for healing us through Dr.Ugo. if you are having any kind of sickness at all, Dr.Ugo is the right person to talk to and i assure you, you will be glad you did. His email: ugoherbalhome@gmail.com you can also write him on WhatsApp +2348104990619.

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  2. Nice blog
    Have been totally convinced that HIV,and many others dangerous diseases can be best cured using the Herbal Medicine. Dr.Akpu the great and powerful herbalist cured me with his Herbal remedy. I'm Linda,15 years from Texas. I was born with HIV. I lost parents at my teenager age when I was 4th. I had to grew up with my mum only Sister, whom I loved so much. She was so worried about my life as my condition was her mature problem in life. I had taken lots of antiviral treatment to get ride of the virus not believing what there said HIV has no cure. I was on the internet when i came across blogs of testimony about a lady who where cured of a 7 years diagnose of Herpes by this powerful Herbalist, Dr.Akpu.I wrote down his mail @ Dr.akpupowerherbscenter@gmail.com
    I told my Aunt,luckily it was the same Dr,we where referred to few months back by my pastor in church whom members have being testifying about of his cure We did contacted him and explained my problem to him.He prepared the medicine and sent to me with details of how to use and apply. After a while, I began to feel more strong than never before, I felt so lucky and happy when my Doctor congratulated me that he could found no HIV virus again in me. I knew I was free cos my body was so strong. His herbal medicine should have saved my parents life, i said!
    Thanks so much for reading my article, you should share your testimony if you have cure as well
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