Diagnosing Challenging cases in Pediatric Medicine

Bartter and Gitelman syndromes are renal tubular salt-wasting disorders in which the kidneys cannot reabsorb chloride in the loop of Henle (LH) or distal convoluted tubule (DCT), depending on the mutation.

Failure to reabsorb chloride results in a failure to reabsorb sodium and leads to excessive sodium and chloride (salt) delivery to the distal tubules, with consequent excessive salt and water loss from the body.
The renin-angiotensin-aldosterone system (RAAS) system is activated with volume depletion.
Angiotensin II (ANG II) is directly vasoconstrictive, increasing systemic and renal arteriolar constriction and proximal tubular sodium reabsorption.

ANG II–induced renal vasoconstriction, along with potassium deficiency, produces a counter regulatory rise in vasodilating prostaglandin E (PGE) levels which is associated with growth inhibition in children.

High levels of aldosterone also enhance potassium and hydrogen exchange for sodium. It may lead to intracellular citrate depletion, because the alkali salt is used to buffer the intracellular acid and then lowers urinary citrate excretion. Hypocitraturia is an independent risk factor for renal stone formation.

Lack of chloride reabsorption promotes inadequate exchange of bicarbonate for chloride, and the combined hypokalemia and excessive bicarbonate retention lead to metabolic alkalosis.

Persons with Bartter syndrome often have hypercalciuria. Normally, reabsorption of the negative chloride ions promotes a lumen-positive voltage, driving paracellular positive calcium and magnesium absorption. Continued reabsorption and secretion of the positive potassium ions into the lumen of the TALH also promotes reabsorption of the positive calcium ions through paracellular tight junctions. Dysfunction of the TALH chloride transporters prevents urine calcium reabsorption in the TALH. Excessive urine calcium excretion may be one factor in the nephrocalcinosis observed in these patients.

In , dysfunction of the sodium chloride cotransporter (NCCT) leads to hypocalciuria and hypomagnesemia which is pathognomonic for Gitelman syndrome. The mechanism of the impaired magnesium reabsorption is unknown but is probably d/t dimished surface area d/t DCT cells apoptosis

Megaloblastic anemia associated with :
1- Vitamin B12 deficiency .
2- Folate deficiency .

1- What drugs-induced B12 deficiency ?
2- What drugs-induced folate deficiency ?

answer :

(1) - Drug-induced Vitamin B12 deficiency :

Colchicine .
Neomycin .
Metformin : oral hypoglycemic drug .

(2) - Drug-induced folate deficiency :

Methotrexate .
Anticonvulsant drugs .
Oral contraceptives .
(+)
Trimethoprim .
Sulphonamides .
Sulphasalazine .

Mnemonics for remembering causes of include:

():
Silicosis & sarcoid
Ankylosing spondylitis & ABPA
Coalworkers lung
Histiocytosis
Extrinsic allergic alveolitis
Tuberculosis

():
Systemic sclerosis
Cryptogenic fibrosing alveolitis
Rheumatoid arthritis
Amiodarone & other drugs:
Bleomycin/busulphan/bronchiectasis

OR

OR

OR

>decreases intracellular glutathione
> ⬆️ tyrosinase enzyme activates
> ⬆️ Melanin synthesis.
Picture below is of ;
Knuckle hyperpigmentation in a proven case of Vit B12 deficiency.

The good thing is, it does reverse with treatment.

(RFS) broadly encompasses a severe electrolyte disturbance (principally low serum concentrations of the predominantly intracellular ions; phosphate, magnesium and potassium) and metabolic abnormalities in undernourished patients undergoing refeeding whether orally, enterally or parenterally.

In essence, RFS reflects the change from catabolic to anabolic metabolism.””

Hypophosphatemia is considered one of the hallmarks of this process.

In general there needs to be low body mass index, unintentional weight loss, minimal or no nutritional intake for a period of time (often 5-10 days) and usually electrolyte abnormalities.

One of main problems is that RFS clinical features can be mild, easily overlooked and also can cause sudden morbities and even mortality.


RFS prevalence varies widely depending on the group studied and the actual definition used from 0.43%-34%.

:

Acute or chronic disease
Critically ill
Chronic infection – HIV
Malignancy
Premature infant
Pregnancy
Prolonged emesis
Older age
Undernutrition
Renal failure
Athletes and military recruits as their nutritional intake may not match their need in training
Gastrointestinal problems
Bariatric surgery
Bowel resection
Esophageal dysmotility and dysphagia
Malabsorption syndrome
Inflammatory bowel
Mental health disorders
Alcohol and substance abuse
Eating disorders especially anorexia nervosa
Schizophrenia
Societal problems
Child maltreatment
Hunger strike
Famine
Migration
Starvation

:

1)General:

Fatigue
Lassitude
Myalgia

2)Cardiac;

Arrhythmias
Congestive heart failure
Sudden death

3)Hematology;

Anemia
Thrombocytopenia

4)Gastrointestinal

Constipation
Nausea
Emesis

5) CNS;

Mental status changes
Acute encephalopathy
Ataxia
Coma
Delirium
Paresthesia
Peripheral neuropathy

6Metabolic;

Hyper or hypoglycemia
Hypokalemia
Hypophosphatemia
Hypomagnesemia
Fluid overload or dehydration
Vitamin and trace mineral deficiencies especially B Vitamins

8)Musculoskeletal;

Muscle weakness
Osteomalacia

9)Renal;

Acute tubular necrosis
Chronic renal impairment

10)Respiratory

Respiratory muscle weakness
Ventilatory dependency
Respiratory failure

11)Other;

Increased risk for infections


of RFS like eating disorders requires an inpatient multimodal approach with very careful monitoring of fluid, electrolyte and energy replacement.
Other nutritional supplementation is usually needed as well, along with appropriate management of the underlying cause of the RFS.

;
The differential diagnosis of hematuria can be remembered using the pneumonic :

>>S – Stones (Urolithiasis)

>>H – Hematologic abnormalities:

AV malformations
Coagulopathy
Sickle cell trait or disease

>>I – Infection, Iatrogenic, Idiopathic, Immunologic;

Benign familial hematuria, idiopathic
Hemorrhagic cystitis, often viral
Collagen vascular diseases
Epididymitis
Exercise
Medications
Me**es
Urinary tract infection/Pyelonephritis
Vasculitis, i.e. Hemolytic uremic syndrome

>>R – Renal abnormalities:

Anatomic abnormalities, i.e. Ureteropelvic junction obstruction, renal cysts
Alport’s syndrome
Nephritis, i.e. Post-streptococcal
glomerulonephritis

>>T – Tumor, Trauma:

Hypercalciuria with or without urolithiasis
Foreign body
Perineal irritation/meatal irritation
Trauma
Urinary tract tumor

We are seeing a very high number of Flu cases these days, most are due to Influenza virus.

Children have high fever, cough, runny nose and body aches.

The is mainly supportive with;
>> regular panadol
>> +/-brufen,
>> bed rest ,
>> oral fluids,
>> hot drinks
>> and a semi solid diet.

Cough is also very common but cough syrups usually don't help and cough settles on its own in a few days.

Seek medical advice if fever does not settle in 2-3 days or the child appears unwell.

The is made up of the following items from the clinical exam:
(((MNEMONIC_FOR_PARAMETERS
CRACS
ie ( conscious level, recessions , air entry , cyanosis , stridor)
Max score in correspondence with CRACKS
53_25_2)))

1)Level of consciousness:
Normal, including sleep = 0; disoriented = 5

2)Cyanosis:
None = 0; with agitation = 4; at rest = 5

3)Stridor:
None = 0; with agitation = 1; at rest = 2

4)Air entry:
Normal = 0; decreased = 1; markedly decreased = 2

5)Retractions:
None = 0; mild = 1; moderate = 2; severe = 3



croup ;
is defined by a Westley croup score of ≤2.

croup
is defined by a Westley croup score of 3 to 5.

croup
is defined by a Westley croup score of 6-11.

A score of ≥12 indicates impending respiratory failure.

;
It is a benign process in which an infant has paroxysms/episodes of inconsolable crying;

-for more than 3 hours per day,

-more than 3 days per week,

-for longer than 3 weeks

There is no specific treatment for this condition.

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Photos from Diagnosing Challenging cases in Pediatric Medicine's post

's Life

1. The sound of restarting heartbeat when resuscitating a patient.

2. Closure after a difficult surgery where only the surgeon knows how he/she has saved a Life.

3. A perfect surgery/ procedure/ stenting without complication.

4. Seeing the beautifull cute face of a healthy newborn.

5. Managing a major bleeder successfully.

6. Reversal of paralysis after thrombolysis ( clot buster injection.)

7. Termination of status epilepticus ( non stop seizures/convulsions. )

8. Control over infection.
Every infection is Life threatening potentially.

9. Waking up to a comatose patient.

10. When a student performs well and patient gives a good feedback about them.

11. When you silently prove your clinical argument with good result.

12. When anyone says "Take some rest now, you have been working too much".

13. When traffic Police " Let you go" for minor offences just because you are a Doctor.

14. When someone say " i want become a doctor like you ".

There are many more.
Everyday is filled with both Tears and Smiles and the doctor has to balance these by using his/her soul as the falcrum.
At the end of the day. death humbles everyone but it is the doctor who stands to defends everyone else Life without thinking
if they are good or bad, friend or enemy.
Who will believe that money, home, family, cars, looks, luxury and even love, romance are secondary joys for most doctors, after they have attended all their patient issues.
This Pride is precious.
The suffering a choice
The rewards immaterial
A good doctor is the best a human being can be.