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.

An Infant With Congenital Arm Deformities And Thrombocytopenia

The X ray shown above is of an infant born with congenital hand and arm deformities. This patient was presented to the emergency department with bleeding from the nose and mouth in his first week of life.

1. What is the most probable diagnosis?
2. What is the usual cause of mortality in such patients?
3. What is its mode of inheritance?
4. How it can be differentiated from Fanconi anemia clinically?

Answers And Discussion:

A 30 Year Old Woman Presented With A Tender Nodule On Her Upper Eyelid

A 30-year-old woman presented with a tender nodule on the upper eyelid along with crusting and erythema to both eyelids. The image is shown below:

The condition was diagnosed as an external hordeolum.
The physician recommended that she apply warm moist compresses to her eyelids 4 times a day. Her hordeola resolved within 7 days.

Case Discussion:

Introduction: A hordeolum is an acute painful infection of the glands of the eyelid, usually caused by bacteria. Hordeola can be located on the internal or external eyelid. Internal hordeola that do not completely resolve become cysts called chalazia. External hordeola are commonly known as styes.

A 3 Month Old Infant With Recurrent Forceful Vomiting

This 3-month-old boy was brought to the pediatrician's office with the complaints of recurrent forceful vomiting of milk since last 2 months. On examination his weight was found to be 3.4 kg. His birth weight was told to be 3.5 kg. Infant was moderately dehydrated and looked anxious and hungry. Certain strange movements were noticed by parents in upper abdomen especially after feeds.

1. What is the most probable diagnosis?
2. Presence of which clinical sign almost confirms the diagnosis?
3. Suggest its salient radiological and USG features
4. What is the management for this condition?

Answers And Discussion:

An 82 Year Old Female Presents With Several Episodes Of Dizziness

An 82-year-old white female is admitted to the hospital for observation after presenting to the emergency department with dizziness. After being placed on a cardiac monitor in the ER, the rhythm strip below was recorded.

There is no past history of cardiac disease, diabetes, or hypertension. When asked in more detail the patient discloses several prior episodes of transient dizziness and one episode of brief syncope in the past. Physical examination is unremarkable.

What is the diagnosis and how will you manage this patient?

Answer And Discussion:

A 35 Year Old G5P4 Has A Retained Placenta After A Vaginal Delivery

A 35-year-old G5P4 woman at 39 weeks’ gestation is undergoing a vaginal delivery. She has a history of previous myomectomy and one prior low-transverse cesarean delivery. She was counseled about the risks, benefits, and alternatives of vaginal birth after cesarean, and elected a trial of labor. She proceeded through a normal labor. The delivery of the baby is uneventful. The placenta does not deliver after 30 minutes, and a manual extraction of the placenta is undertaken. The placenta seems to be firmly adherent to the uterus.

1. What is the most likely diagnosis?
2. What is your next step in management for this patient?

Answer And Discussion:

1. What is the most likely diagnosis?
Answer: Placenta accreta.

2. What is your next step in management for this patient?

Answer: Hysterectomy.

Case Discussion: