High Yield Topics for cracking PGMEE

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MyPGMEE Authors: Dr. Mudit Khanna, Dr. Sushant Bhanja, Dr. Punit Bhojani and Dr. Ashwin Singh Parihar.

Topic 1

Pseudohypoaldosteronism type 2, also known as Gordon syndrome

1. Defect in WNK KINASES 1, 4 (AUTO. DOMINANT)
2. GoF mutation leading to increased activity of distal sodium-chloride transporter.
3. This leads to high S. Sodium and chloride levels; Hence Renin and aldosterone levels are normal to low.
4. Secondarily, S. Potassium is also raised due to impaired secretion; this also leads to acidosis.
5. This is a scenario of Hyperkalemic Hypertension with Hyperchloremic acidosis (correlate from above)
6. Treatment would require reduction of the activity of this transporter, and hence we use thiazides.

P.S. Hypercalciuria is a feature of gordon syndrome, and hence nephrolithiasis and bone demineralization may be seen.

Topic 2

Pulmonary Alveolar Proteinosis

1. >90% cases acquired, occurring due to IgG antibodies against GM-CSF; Congenital cases due to mutations in SP-B gene; Secondary cases due to acute silicosis and hematologic malignancies.
2. Males more commonly involved, usually present with non-productive cough. (Gelatinous expectoration may also be seen)
3. Pathogenesis is due to the impaired function of the alveolar macrophages. Inflammation is characteristicaly absent/very low.
4. Investigations: Polycythemia, Increased LDH, Hypergammaglobulinemia, High titres of anti-GM CSF igG, especially in BAL fluid.
5. CXR- Bat wing opacities.
6. HRCT - Ground glass appearance with thickened interlobular septa and intralobular structures.
7. Treatment: Whole lung lavage.

     

Topic 3

Pulmonary Alveolar Proteinosis

Alopecia Areata

First we have to know that AA is a CHRONIC, auto-immune disease which leads to destruction of hair (via CD8+ cells), and frequently involves nails in the form of pitting.
The resulting alopecia is a NON-SCARRING one and hence reversible.

1. Alopecia is patchy(leading to smooth bald patches), may involve complete scalp (A.A.totalis) or complete scalp and body hair (A.A.Universalis) {Totalis/Universalis indicate bad prognosis}
2. Due to its auto-immune etiology, it can be associated with thyroiditis, vitiligo and pernicious anaemia.
3. Classical exclamation hair is seen which has a thin proximal shaft and a normal distal shaft.
4. Majority of cases have spontaneous improvement. Those requiring treatment are given intralesional corticosteroid injections.

     

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