Dent's disease

Dent’s disease: Everything You need to know about

Dent’s disease is a disease that affects more men. It is a rare disease caused by a mutation on the X chromosome that causes kidney failure.

Content Summary

  •  Causes
  • Symptoms of Dent’s disease
    • In type 1 ED
    • Type 2 ED
  • Diagnosis
  • Treatment
  • Forecast

Dent’s disease is a rare genetic disease that causes kidney damage . To date, the disorder has been described in only about 250 families worldwide.

It usually occurs only in men , sometimes since childhood or adolescence, while women are usually only carriers and present a milder clinical form.

Dent’s disease causes:

  • Alteration in the tubular handling of low molecular weight proteins.
  • Renal phosphorus leak associated with hypercalciuria , that is, excess calcium in the urine.
  • Nephrocalcinosis or calcification of the kidney
  • Progressive chronic kidney disease

 Causes

The disease is caused, in most cases, by mutations in the CLCN5 (ED type 1) and OCRL1 (ED type 2) genes, located on the X chromosome , specifically at locations Xp11.22 and Xq25, respectively. Although, some patients with ED do not have mutations in either of these two genes, which suggests the involvement of other genes that may not yet have been identified.

Males have XY chromosome, while females have XX. In the case of men, when the X chromosome is affected, they already have the disease. But, in the case of women, both X chromosomes would have to be affected, something more unlikely. That is why it is more common in men.

Symptoms of Dent’s disease

In type 1 ED

Renal manifestations predominate and the patient will present:

  • Low molecular weight proteinuria (presence of excess protein in the urine).
  • Hypercalciuria (excess calcium in urine).
  • Nephrolithiasis (formation of stones in the kidney) with low back pain and hematuria (blood in the urine).
  • Nephrocalcinosis (kidney calcification).
  • Renal insufficiency

Proximal tubule dysfunction can be more serious, causing a ” Fanconi syndrome “, which associates excessive elimination of substances in the urine:

  • Aminoaciduria (amino acids)
  • Phosphaturia _
  • Glucosuria (glucosa)
  • Uricosuria (uric acid)
  • Kaliuresis (potassium)
  • Urinary acidification defect.

The disease is frequently complicated by rickets or osteomalacia .

Type 2 ED

It is characterized by extrarenal manifestations such as mild intellectual deficit , hypotonia (muscle flaccidity) and cataracts (symptoms milder than in Lowe’s oculocerebrorenal syndrome).

 

Diagnosis

Clinical suspicion is based on the detection of the aforementioned excessive elements in urine . But the diagnosis is confirmed by molecular genetics. For the genetic study, it will be necessary to send samples from the parents together with those of the index case. The fundamental thing is that it be detected early.

Treatment

Treatment is symptomatic, aimed at improving hypercalciuria and preventing the appearance of nephrolithiasis.

  •  Hypercalciuria can be treated with thiazide-type diuretics since they increase calcium reabsorption at the tubular level, but adverse effects have been described. Long-term control of hypercalciuria with a citrate-rich diet may slow the progression of kidney disease.
  • Rickets can be treated with Vitamin D but we must also be cautious when using this vitamin because it can increase hypercalciuria.
  • To reduce proteinuria, the progression of kidney damage and cardiovascular risk, it is necessary to prescribe a nephroprotective treatment based on renin-angiotensin-aldosterone system blockers (RAAS)

Patients with end-stage kidney disease due to Dent’s syndrome require renal replacement therapy and are usually excellent candidates for transplantation (no recurrence on the transplanted organ).

Forecast

The vital prognosis is good in most patients. Progression to end-stage renal failure occurs between the third and fifth decade of life in 30% to 80% of affected males.

What you should know…

  • Type 1 Dent’s disease presents with renal manifestations, and type 2 is characterized by extrarenal manifestations such as mild intellectual deficit, hypotonia (muscle flaccidity) and cataracts.
  • Treatment is symptomatic, aimed at improving hypercalciuria and preventing the appearance of nephrolithiasis.
  • The vital prognosis is good in most patients.
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