Case Discussion

In May 2002, a 59-year-old male was admitted to our hospital because of extreme fatigue during the last week and elevated levels of urea and S-creatinine on biochemical tests. His past history included mild proteinuria since 5 years (last measurement 1,35 gr/day), cardiomyopathy since 7 years (he received verapamil treatment), chronic obstructive pulmonary disease (on inhalation therapy) since 5 years and partial deafness with tinnitus since 10 years. His family history was positive for renal disease: his mother had suffered from cardiomyopathy, deafness and chronic kidney disease (CKD) of unknown origin. On admission he did not report abnormalities of diuresis or fever.
Physical examination was regular except for reddish macular-papular skin lesions in the abdomen (which were reported since the age of 30 years) and blood pressure of 160/80 mmHg.

Laboratory examinations showed serum creatinine of 4,4 mg/dl (please provide SI units), BUN of 80.9 mg/ (please provide SI units),and moderate anaemia. In the urinary sediment 20-25 RBC/hmf (please explain) were found. 24-hour urinary protein excretion was 800 mg. A renal ultrasound revealed small, shrunken kidneys and a cardiac echo a thickening of the interventricular septum of 1,99 cm and a left ventricular outflow gradient of 67 mmHg. Ophthalmologic examination revealed tortuosity and ''sausage-like'' anomalies of the conjunctival and retinal vessels.

What is the diagnosis?

Answere:

Fabry disease . This diagnosis should be considered because of the symptoms and signs of cardiomyopathy, skin lesions, ocular abnormalities and family history of renal disease.

The clinical diagnosis of Fabry disease must be confirmed by assay of a-galactosidase activity in leukocytes or plasma and/or detection of GL3 deposition in tissue biopsies .
In our case a renal biopsy could not be performed. CT scan and MRI are no diagnostic tools for this case.

Since 2001, enzyme replacement therapy (ERT) is the only specific treatment for Fabry disease.Immunosuppressive drugs (corticosteroids and cyclosporine) have no effect on the disease. Gene therapy is a potential option for treatment of Fabry disease but is currently on development [3].Anticonvulsant drugs are used as symptomatic therapy of neuropathic pain due to Fabry disease .

COMMENTS

Fabry disease is an X-linked lysosomal storage disorder caused by deficient or absent activity of the lysosomal enzyme α-galactosidase A. Insufficient activity of this enzyme causes the accumulation of glycosphingolipids with terminal α-galactosidic linkages, particularly globotriaosylceramide (GL-3), in various tissues and cell types . This process causes damage to endothelial, perithelial and smooth-muscle cells of the vascular system, glomerular and tubular cells of the kidney, myocardial cells and valvular fibrocytes, epithelial cells of the cornea and ganglion cells of the dorsal root and autonomic nervous system, as well as cortical and brain-stem structures. Therefore, the disease presents as a multi-system disorder, clinical features being typical but highly variable in affected individuals. Renal disease is one of the major causes of morbidity and mortality in Fabry patients. In classically affected males, the first renal manifestations can be observed as proteinuria, hematuria and lipiduria. In our patient, except for hematuria and proteinuria, Fabry disease was suspected also because of skin lesions and cardiac involvement. Even though ERT was started when the patient was on dialysis, there was a clinical improvement in his cardiac and renal function. Some studies refer to a more important clinical benefit for transplanted patients with Fabry disease . Different treatment approaches are currently on development. One of them implies the use of the active-site-specific chaperone 1-deoxygalactonojirimycin that acts facilitating folding of mutant GLA in the endoplasmic reticulum and increasing its lysosomal residual activity. Reduction of Gb3 deposits has been shown in lymphoblasts from Fabry patients with missense mutations and transgenic mouse model expressing a missense mutation GLA. Gene therapy has been also developed as a potential option for treatment of Fabry disease/

Case of AKI

  

A 56-year-old man presented to the emergency room (ER) with complaints of chest pain and shortness of breath. The patient reported a sudden experience of tightness in his chest while doing yard work 4 hours prior to the ER visit. He has subsequently been experiencing episodes of nausea and periods of coughing. His past medical history is significant for hypertension, type 2 diabetes mellitus, and hypercholesterolemia. His current home medications are metoprolol, metformin, and simvastatin; his wife pointed out that he does not take his medications regularly. 
He has no known allergies. 
He smoked 30 packs of cigarettes per year for the past 30 years, and consumes 2 to 3 glasses of wine per day in addition to 2 cups of coffee. The patient denies any history of recreational drug use.
 The patient does not exercise regularly. 

In this case, a patient presented to the emergency department with symptoms characteristic of a myocardial infarction and subsequently underwent emergency CABG surgery. Following surgery, the patient remained relatively stable on the first postoperative day. By day 2, the patient had become oliguric and elevations in serum BUN and creatinine were noted. Despite volume challenges, these levels rose for a second day. A diagnosis of AKI was made, most likely secondary to multiple insults: hypotension, radiocontrast dye, and cardiac surgery. Approximately 5% to 15% of patients undergoing cardiac surgery with the use of cardiopulmonary bypass have AKI, and roughly 10% of these cases require dialysis. The in-hospital mortality rate associated with postoperative AKI requiring dialysis is upwards of 35% with a 2-year survival rate less than 20%.

Multiple mechanisms could have contributed to the patient's AKI. First, he presented with hypotension in the ER. Second, he received contrastAKI remains a common disorder among critically ill patients. It is therefore imperative that preventive measures such as restoration of intravascular volume status, maintenance of adequate renal perfusion pressures, and limiting exposure to nephrotoxins should be undertaken.

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Case scenario discussion

8 year female presented with history polyurea , polydipsia , Pallor , lethargy and groth

Retardation. There is strong history of ESRD in family. In young age. There is no history of

Nephrolithisis , hematuria in familly.Ulsasound revealed small kidneys with multiple  medullary

Cysts. What is the most likelly diagnosis with explannation?

Answere: 

 The most likely diagnosis is Jevenile nephronophthsis. This and medullary cystic disease are famillial

Disorder with different modes of inherittance. But both present with progressive renal failure and

Multiple renal cysts in medullary and corticle. Juvenile nephronophsis is autosommal recessive which

Involve chromosome 2. Mostly present before 20 year, while cystic medullary kidney disease presents

After 20 years. Extra renal manifestation are mental retardation, c erebral ataxia, occular abnormailties

Like amblypia, cataract, tetinitis pigmentosa.

Osmolality

Osmolality of body fluid is a measure of its solutes to water ratio. 
The osmolality of serum, urine, or other body fluids depends on 
the number of osmotically active ions and molecules dissolved in 
a kilogram of body water. Sodium, potassium, chloride, bicarbonate,
 glucose and urea are the osmotically important body fluid solutes. 
The osmolality of a body fluid increases as the ratio of solute to water molecules increases.
Osmolality is expressed as "so many" milliosmoles per kilogram of water (mOsm/kg water). The osmolality of a fluid can be calculated by adding the values of its constituent solutes. A common simplified formula for serum osmolality is:

Calculated osmolality = 2 x serum sodium + serum glucose + serum urea (all in mmol/L). 

Osmolality can also be measure by an osmometer. The difference between the calculated value and measured value is known as the osmolar gap.

Following are the condition which increase osmolality:

• Dehydration/sepsis/fever/sweating/burns
• Diabetes mellitus (hyperglycemia)
• Diabetes insipidus
• Uremia
• Hypernatremia
• Ethanol, methanol, or ethylene glycol ingestion
• Mannitol therapy

These are associated with decreased osmolality:

• Excess hydration
• Hyponatremia
• Syndrome Inappropriate ADH secretion (SIADH)

Case discussion

14 year girl in school examination was found to be having BP 10/100. her heitht is 4.7m and weight 69kg.
Ultrasound was done which showd horse shoe kidney.
On further examination she had short neck and significant assemtery of BP in both arms.

What comes in mind?


Answere:
This is a case of Turner syndrom and she had Coarctation of Aorta.
Coarctation should be  treated in childhood as late repair would not
solve problem of hypertension.