Wednesday, 9 November 2016

ENDOCRINOLOGY CASES

Case- 1

A 30 yr old woman, fractured her skull in an accident. She had no major injuries, no significant blood loss and her cardiovascular system was stable. She was unconscious for 2 days after the accident. On the 4th day of her admission to hospital, she was noted to be producing large volumes of urine and complaining of thirst.
Biochemical findings were:
Na+        K+      Cl-       HCO3-    Urea                           Creatinine       Glucose
150       3.6     106      25           5.5    mmol/L            80 μmol/L          5.4 mmol/L
Serum osmolality  = 310 mmol/kg
Urine osmolality = 110 mmol/kg

Urine volume = 8L/ day


Solution:-

One can make a confident diagnosis of central diabetes insipidus from the history of head trauma and the observation that she was producing large volumes of urine and complaining of thirst. Her blood glucose level excludes diabetes mellitus as a cause of her polyuria and her hypernatraemia accounts for her thirst. In normal circumstances a serum sodium concentration of 150 mmol/L will stimulate AVP production and cause the urine to be maximally concentrated. This patient’s urinemis, therefore, inappropriately dilute. It would be unnecessary and even dangerous to attempt to perform a water deprivation test on this patient. Note that her serum urea is not increased. This reflects her high urine flow-rate despite her significant water depletion.

Cases 2

A 31 year old woman was admitted to a surgical ward with a  2 day history of abdominal pain and vomiting. Her BP was 110/65 mmHg and her pulse 88 beats per minute and regular. A provisional diagnosis of intestinal obstruction was made.
On admission, tests showed:
Na+    K+      Cl-         HCO3-     Urea                      Creatinine
128     6.1    92         18           10.8  mmol/L           180μmol/L
She was given 1.5 L of 0.9% saline intravenously, overnight and the following morning her symptoms had resolved. Her serum sodium had increased to 134mmol/L and her serum potassium had fallen to 4.8 mmol/L. On reviewing her history, she had been unwell for a number of months with weight loss and anorexia. She had noted to be pigmented. Her cortisol levels were less than 60nmol/L

Solution:-

This presentation is classical of acute adrenal failure with characteristic symptoms, physical findings and electrolyte pattern. The diagnosis is confirmed by the Synacthen test. On presentation, this woman was sodium depleted with pre-renal uraemia. As her ECF was expanded with 0.9%
sodium chloride, this improved her glomerular filtration rate, which is sufficient, even in the absence of aldosterone, to correct the hyperkalaemia by increasing her urinary potassium excretion. The reduction in this patient’s blood volume will stimulate vasopressin secretion, giving rise to the hyponatraemia. The sodium chloride infusion by restoring her blood volume will inhibit AVP secretion, enabling her to correct the hyponatraemia.

Rare Diseaes Some examples of rare diseases are  Spinal Muscular Atrophy ,   Osteogenesis imperfecta ,   Achondroplasia   or   Rett Syndrome...