A Child with Facial Swelling Case Study 2 (Clincial Pathology)

In this post, we are going to discuss A Child with Facial Swelling Case Study of Clinical Pathology.

A child with Facial Swelling History:

A seven-year-old boy is brought to the Emergency Department by his mother, as he has noticed that his face “swells” last week. The boy has also told her that his urine starts to bubble. Aside from a sore throat two weeks ago, the boy was fit and well, although he has felt a bit “discolored” since the mild illness. He has no known allergies.  Check more Study Cases here

Examination

Physical examination reveals a well-looking child with bilateral periorbital oedema and bilateral pitting pedal oedema

investigation case 2

Requirements:

  1. What is the term given to the spectrum of findings described above, and what further investigations should be performed? 2
  2. What are the possible causes in this particular case, and which is most likely?
  3. What is the pathophysiology of the most likely cause, and what should the mother be told about the likely prognosis?

Solution:

The spectrum of findings found in this patient (proteinuria, hypoalbuminemia, and edema) includes the nephrotic syndrome. The initial event is the loss of large amounts of protein (> 3.5 g per day) in the urine, resulting in hypoalbuminemia. The subsequent drop in plasma oncotic pressure leads to redistribution of extracellular fluid to the interstitial compartment, producing edema. Nephrotic syndrome must be distinguished from nephritic syndrome, the latter representing an inflammatory process often characterized by hematuria, uremia, and some degree of kidney failure, while the former typically represents a degenerative process.

There are numerous consequences of proteinuria, which should be the subject of further investigation. The hypoalbumemic state causes an increased rate of liver protein synthesis, leading to hyperlipidemia and occasionally lipiduria. Protein loss also leads to other metabolic disorders, primarily hypocalcemia. Nephrotic syndrome is also associated with a hypercoagulable state, with a particular association with renal vein thrombosis. The cause of this is unclear, but hypotheses include

(1) excessive loss of anticoagulant factors (such as protein S and antithrombin) in the urine and increased production of procoagulant factors (such as factors V and VIII) by the liver,

(2) increased platelet aggregation,

(3) damage to the glomerulus mediated by immune complexes, causing a procoagulant effect, and

(4) increased production of lipoprotein (a).

The causes of nephrotic syndrome may be grouped into two categories:

1. Primary glomerular disorders, such as minimal change disease, membranous glomerulopathy, focal segmental glomerulosclerosis (FSGS), and other glomerulonephritides

2. Systemic diseases affecting the kidney, such as diabetes mellitus, amyloidosis, systemic lupus erythematosus, and drugs (e.g. nonsteroidal anti-inflammatories [NSAIDs]).

The commonest cause of nephrotic syndrome in children is minimal change disease (MCD). Here, the history of an upper respiratory tract infection is suggestive of MCD given the temporal association between the two.

The term minimal change disease refers to the fact that the histological appearance of the nephrons in diseased individuals appears normal. However, in electron microscopy, the effacement of the processes of the foot of the podocytes in the glomerulus is observed. The pathogenesis of DCM is uncertain, and the most popular theory proposes that it arises as a disorder of T-cell function, with the release of various cytokines, such as IL-4, IL-10, and IL-13, which damage the glomerulus. .

Treatment of the first attack of DCM is with steroids, usually over a period of about 6 to 8 weeks, and most children achieve a complete remission. Relapses can be treated with steroids or, in refractory cases, with immunosuppressants such as cyclophosphamide or cyclosporine. In any case, most children with NDE stop relapsing and lead normal lives without any evidence of kidney failure or urinary abnormalities.

 

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