HEREDITARY TUBULOPATHY

Tubulopatii (tubular dysfunction) - Group nephropathy, is caused by-\ lennyh

violation transport processes in the tubules. Excrete primary | (hereditary) and
secondary tubulopatii, developing with inflammatory-\ GOVERNMENTAL kidney
diseases, diseases of the exchange of medical and kidney damage.

Primary tubulopatii may be caused by a defect of enzymes, providing transport of

substances in the cells of the tubules, impaired specific membrane protein carrier, a
change in receptor sensitivity tubular epithelium to the action of hormones and tubular
dysplasia. The variety of reasons and the possibility of selective localization of the
anomalies in the tubules explain the polymorphism of clinical manifestations of this
pathology. In accordance with the basic hereditary syndromes tubulopatii divided into
three groups.One of them includes tubulopatii accompanied by changes in skeletal
rahitopodobnymi [phosphate-diabetes, glyukoaminofosfatdiabet or disease de Toni-
Debre-Fanconi, renal tubular acidosis (see Chapter 10, "Rickets and rahitopodobnye
disease")], the second - tubulopatii with polyuria (renal glycosuria, renal diabetes
insipidus, renal salt diabetes), the third group is accompanied by nephrotoxicity
litiazom (cystinuria, glitsinuriya).

Phosphate-DIABETES

Phosphate-diabetes (hypophosphatemic vitamin D-rezistententny rickets) - a

hereditary disease (R, dominant) due to reduced phosphate reabsorption in the
proximal renal tubules. Is manifested giperfosfaturiey, hypophosphatemia, increased
alkaline phosphatase activity and development rahitopodobnyh changes that are
resistant to treatment with vitamin D in normal doses. Among the suspected causes
are most likely the absence or low activity of enzymes providing reabsorption of
phosphate in the proximal tubule.

Clinical picture. The first signs are most clearly visible in the beginning of the 2 nd
year of life or later. Emphasis is placed on shaky "duck" gait, adynamia, low growth,
the growing O-image-ing bending legs and less pronounced deformation of the
remaining parts of the skeleton. Sometimes the child ceases to walk because of pain in
the bones; possible spontaneous fractures. Mental development correlates with age,
but children may be closed, refuse to communicate with their peers, as well as suffer
because of his disability.

Laboratory studies. In the study of urine excretion increased set of inorganic

phosphorus. Its concentration in the blood significantly reduced the activity of
alkaline phosphatase in 2-3 times higher than normal, but not hypocalcemia (or it is
insignificant). X-ray picture of bone changes similar to the classical rickets (vitamin
D-de-fitsitnom). In contrast to rickets, phosphate-diabetes is characterized by late
onset, absence of anemia and the involvement of organs reticuloendothelial system,
despite the pronounced bone changes.

Treatment. Therapy conventional doses of vitamin D is unsuccessful. However,

contrary to the name of the disease yields to the impact of this drug in the appointment
in large doses: first by 10-25 thousand ME, and then under the control sample
Sulkovicha to 20-50 thousand ME and more per day to normalize rates of phosphorus
and alkaline phosphatase in serum blood. Consider optimal treatment of active
vitamin D 3 metabolites kaltsiotriolom (rokaltrol). In the medical complex includes
preparations of calcium and phosphorus. For introduction into the inorganic
phosphates can use a mixture of Albright (24 g of citric acid, 40 g sodium citrate, 400
g of distilled water) orally for 1 st. l. 4-5 times per day. When gross bone deformation
is shown orthopedic treatment.

LEAF Diabetes insipidus

Renal diabetes insipidus - a hereditary disease (K, Domination) - is characterized by

numbness of the distal tubules to ADH, which manifests the inability of the kidneys to
concentrate urine. The result is a loss of a large number of osmotically free
water. This leads to hyperospheresia extracellular fluid and, consequently, to the
dehydration of cells.

Clinical picture. The first symptoms appear immediately after birth and increase with
the transition to replacement feeding that is associated with an increase in osmotic
pressure. The child appeared fever, vomiting, constipation and cramps in the first
week of life, as well as dehydration and hypernatremia. Symptoms in older children -
polyuria, nocturia, polydipsia, growth retardation, hypotonia of the lower urinary tract
and bladder, it is possible hydronephrosis. Differential diagnosis spend with
pilorospazme, many diseases which are accompanied by fever, and other
tubulopatiyami occurring with polyuria, as well as with pituitary diabetes insipidus
(ADH sensitivity when it is saved).

Treatment. Patients showed high fluid intake and the appointment of

hydrochlorothiazide (eg Hypothiazid), inhibiting reab-sorption of sodium chloride in
ascending loop of Henley division and, consequently, reduces the secretion of
osmotically free water. You need to assign agents to limit potassium and a moderate
intake of sodium, controlling their content in blood and urine.
Forecast. Forecast depends on timely diagnosis and adequate therapy. There may
come a fatal outcome in the background of hyperthermia. The immediate cause of
death of the patient most often secondary infection, quickly leads to dehydration.