RICKET-LIKE DISEASES

Rahitopodobnye disease differ from the etiology of rickets, but have phenotypic similarities with
them (the strain of the skeleton), which is based on violation of the exchange of phosphorus and
calcium. The greatest clinical significance are diseases caused by disorders of the kidneys
(hereditary nephropathy).

Pathogenesis

At the present time is divided into four groups of hereditary nephropathy with rahitopodobnymi
changes (Table 10-4). Leading pathogenetic link may be implemented in the gastrointestinal
tract, liver, kidneys, bone tissue; possible defect in the metabolism.

Clinical picture

The main clinical manifestations of hereditary nephropathy are shown in Table 10-4. Also see
"Hereditary tubulopatii" in Chapter 16, "Diseases of the kidneys and urinary tract.

Diagnosis and differential diagnosis

Diagnosis rahitopodobnyh diseases based on family history (detect the presence of low-growing
family of deformations of the skeletal system) and the clinical picture (the backlog of children in
growth, urinary syndrome, pronounced muscular hypotonia, late O-or X-shaped deformity of
feet, continuing after 2-4 years) .

In the differential diagnosis of certain diseases rahitopodobnyh matter the type of deformation of
the lower extremities. Thus, the varus deformity is characteristic of vitamin D-resistant rickets,
and possible if the disease de Toni-Debre-Fanconi. Valgus deformities and mixed types are
possible with the type of distal renal tubular acidosis and disease de Toni-Debre-Fanconi. The
most difficult differential diagnosis is a severe form of classical and vitamin D-dependent
rickets. Normal rickets develops against the backdrop of a lack of prevention and the positive
effect of treatment with vitamin D at a dose of 2000-4000 IU / day is evident in 2-3 weeks,
which is not observed in vitamin D-dependent rickets.

Treatment

Treatment rahitopodobnyh disease carries pediatrician, together with genetics and

nephrologists. Continuous biochemical monitoring of blood and urine, as in some forms
rahitopodobnyh disease with therapeutic vitamin D to appoint 30-50 thousand IU / day
continuously for 1-5 years. Widely used and the active metabolites of vitamin D.

Forecast
With timely diagnosis and proper treatment, most children show remission. The absence of
treatment to 5.7 years during the acute illness passes in subacute. By 13-15 years can rekonva-
lestsentsiya, but more often formed CRF. Surgical correction of deformation of the lower
extremities should not be held earlier 10-12 years.

Table 10-4. Hereditary nephropathy, accompanied by rahitopodobnymi changes

Signs / forms Vitamin D-resistant Vitamin Disease de Toni - Kidney

rickets (phosphate diabetes) D-dependent rickets Debre-Fankoii tubular acidosis
Type inheritance 9t or coupled with the X- P P
9? or p
chromosome
Causes of The sharp decline Serious defects pro - Violation functions
1. The lack of 1a-hydro -
reabsorption of phosphate ksilazy, which transforms ksimalnyh and distal renal tubules
in proximal kaltsidiol of calcitriol, GOVERNMENTAL kidney or failure
tubules
tubules because of what has been lost Suction violation of reab - proximal
-
tion of calcium in the gut. sorption of amino acids, tubules reabsor -
glucose and phosphorus adsorbed bicarbonates
2. Insensitivity
target organs (kidney,
intestine, bone) to the action
metabolite of vitamin D
Timing of Usually after a year when In the first year of life, Usually the first year On the second or
bone changes children begin to walk usually in the second half life, sometimes in adults third year of life
Characteristic The lag in growth, Lag in psychomotor Anorexia, thirst, Anorexia, polyuria,
clinical "Duck" gait, development, we expressed - polyuria, a significant stunting and
signs increasing heavy muscular hypotonia, varus stunting, body mass, valgus
varus deformity deformities of the legs at the bottom varus or valgus deformed feet; early
feet third leg, frequent pneumonia deformed feet developing
nephrocalcinosis
Concentration Sharply reduced Reduced, at least not changed Reduced Reduced
phosphorus in the
blood
Concentration Normal Reduced Normal or Reduced
calcium in the blood reduced
Phosphorus Improved Improved Improved Normal or
urine improved
Calcium content Normal Normal or elevated Normal or Improved
urine improved
Hypokalemia No Eat Eat Eat
Giperaminoatsiduriya No Eat Eat No