- Oculo-cerebro-renal Syndrome.

Oculo-cerebro-renal Syndrome

-Def:- It is a X-linked recessive disorder of eye,cerebral cortex and renal tubules .

-Synonyms (1):-

• Lowe's oculocerebrorenal disease/syndrome.
• Lowe's disease/syndrome.
• Oculocerebrorenal dystrophy.

- The condition became known as "Lowe syndrome" named after Dr. Charles Lowe, the senior member of the group that described it.

-Clinical picture:-

- Light Wood-Albright syndrome.

Light Wood-Albright syndrome
Lightwood syndrome
Renal tubular acidosis (RTA) (Type-2)
(Proximal RTA)

-Pathophsiology:-

it is caused by failure of the proximal tubular cells to reabsorb filtered bicarbonate from the urine, leading to urinary bicarbonate wasting and subsequent metabolic acidosis.

-Clinical picture:-

- Abderhalden-Kaufmann-Lignac syndrome.

"Abderhalden-Kaufmann-Lignac syndrome"

"cystinosis"

-Def:- it is an autosomal recessive disorder involving deposits of cystine crystals in lysosomes of liver,spleen,bone marrow,cornea, and renal tubules due to abnormal metabolism of cystine .

-Incidence :- 1 : 100,000- 1 :200,000.

-It is the most common cause of Fanconi syndrome in the pediatric age group.

-Clinical picture:-

- Fanconi's syndrome.

"Fanconi's syndromes"

* There are many types of Fanconi's syndrome according to
etiology :-

-Primary type

-Hereditary:-

• Abderhalden-Kaufmann-Lignac syndrome "cystinosis" (click here).
• Oculo-cerebro-renal Syndrome (Lowe's Syndrome) (click here).
• Galactosemia.
• Wilson disease.

-Drug induced:-

• Out dated tetracycline.
• Cyclosporin.
• Heavy metals (e.g lead poisoning).

*Fanconi's syndrome ( primary type)*

-Def:- it is an autosomal recessive disorder due to multiple defects in proximal renal tubules which decrease the urinary re-absorption of phosphate,bicarbonate,glucose, amino acids and may be Potassium ( they all are lost in urine).

-It is named after Guido Fanconi, a Swiss pediatrician.

-Clinical picture:-

- What is mesothelioma?

What is mesothelioma?

Mary Hesdorffer, MS, APRN, nurse practitioner at the Mesothelioma Applied Research Foundation explains mesothelioma.