2) и\или при иммуногистохимии биоптата почки отсутствие цепи альфа-5 коллагена IV типа
- это норма

А это с-м Альпорта: отсутствие альфа-5 цепи.

Table 2 Diagnostic criteria for familial hematurias
Alport syndrome
The presence of two of the following diagnostic criteria establishes the diagnosis of Alport syndrome:
Family history of hematuria progressing in males to ESRD
• About 10–15% of males with XLAS have de novo mutations, so family history may be negative for renal disease. Family history may also be
negative in patients with ARAS, although one or both parents may have hematuria
Characteristic thickening of the glomerular basement membrane and splitting of the lamina densa, detected by electron microscopy of kidney
biopsy specimens
• Children with Alport syndrome may exhibit only diffuse GBM attenuation, making differentiation from TBMN a challenge
Progressive, high-frequency sensorineural deafness
The hearing deficit is frequently detectable by audiometry in later childhood (5–10 years of age) in boys with XLAS and both boys and girls
with ARAS
Anterior lenticonus or perimacular retinal flecks
• These changes are pathognomonic of Alport syndrome. Anterior lenticonus is usually not detectable until later adolescence
Characteristic abnormalities of renal basement membrane expression of type IV collagen α3, α4, and α5 chains (i.e. the α3α4α5 network) by
immunostaining of renal biopsy specimens
• It is important to note that normal renal basement membrane expression of type IV collagen α3, α4, and α5 chains cannot by itself exclude a
diagnosis of Alport syndrome
• XLAS: about 80% of XLAS males exhibit complete absence of α3, α4, and α5 chains in renal basement membranes; 60–70% of XLAS
females exhibit mosaic staining patterns for these proteins
• ARAS: the characteristic pattern is complete absence of α3, α4, and α5 chains in GBM, absence of α3 and α4 chains in Bowman’s capsules
and distal tubule basement membranes, but persistence of α5 chains in Bowman’s capsules and distal tubule basement membranes (as a
component of α5α5α6 networks)
• ADAS: results of immunostaining for α3, α4, and α5 chains are normal
Characteristic abnormalities of epidermal basement membrane expression of the α5 chain of type IV collagen by immunostaining of skin biopsy
specimens
• The normal epidermal basement membrane expresses α5α5α6 networks. The α3α4α5 network is not expressed in epidermal basement
membranes of normal subjects
• It is important to note that normal epidermal basement membrane expression of the α5 chains cannot by itself exclude a diagnosis of Alport
syndrome
• XLAS: about 80% of XLAS males exhibit complete absence of α5 chains in epidermal basement membrane; 60–70% of XLAS females
exhibit mosaic staining patterns for this protein
• ARAS and ADAS: results of immunostaining for the α5 chain in epidermal basement membrane are normal
Mutations in COL4A3, COL4A4, or COL4A5 genes
• XLAS: the rate of detection of mutations in COL4A5 in males with XLAS is 80–90% by direct sequencing
• ARAS: direct sequencing identifies ∼90% of mutations in COL4A3 or COL4A4 in ARAS patients with consanguineous parents
Thin basement membrane nephropathy
A diagnosis of TBMN can be made on the basis of clinical and pedigree data; renal biopsy may be unnecessary. Criteria for a clinical diagnosis of
TBMN include all of the following criteria:
Isolated hematuria; kidney function, urine protein excretion, and blood pressure are normal
Positive family history of hematuria, consistent with autosomal dominant transmission
Negative family history of kidney failure
Renal biopsy may be used to confirm a suspected diagnosis of TBMN. Histological diagnosis is based upon the finding of diffuse attenuation of
GBM, as determined by electron microscopy, and the absence of other abnormalities by light microscopy (glomerular cellular proliferation or
glomerulosclerosis), immunofluorescence microscopy (glomerular deposition of immunoglobulin or complement), or electron microscopy
(lamina densa splitting or fusion of glomerular visceral epithelial cell foot processes). Diffuse GBM attenuation is present when mean GBM
width is greater than 2 SD below age- and gender-specific mean values.
Immunostaining of renal biopsy specimens for type IV collagen chains can provide useful adjunctive data. In a patient with diffuse GBM
attenuation and who satisfies clinical criteria for TBMN, normal immunostaining for type IV collagen α3, α4, and α5 chains (i.e. the α3α4α5
network) supports a diagnosis of TBMN.

Ох уж эта гипопластическая дисплазия - ноу-хау института на Талдомской... А в каком году биопсия выполнялась?
Это как имевшееся когда- то в Библии утверждение о том, что Земля плоская. Долгие годы понятие пытаются адаптировать к новым знаниям, но потом всё-таки приходится от него совсем отказаться.