**Author details**

*Sarcoidosis and Granulomatosis - Diagnosis and Management*

for tuberculoma when he was 6 years old.

carried out at the age of 17 years.

with mycophenolate mofetil.

**3. Conclusion**

The cause of the disease is a mutation of one of five genes encoding phagocyte nicotinamide adenine dinucleotide phosphate (NADPH) oxidase subunits. The mutation of the CYBB gene (Xp21.1) is detected in most cases. The mechanism of granuloma formation is not clear, but in this disease abnormally long activation of neutrophils in inflammation foci is noted, which leads to chronic inflammation [22]. Most often, granulomatous damage involves the skin, lymph nodes, gastrointestinal tract, and liver [23]. Usually, the disease is diagnosed within the first 5 years of life; however,

This disease presented in a boy, who manifested all the typical symptoms. This 16-year-old boy was sick from birth. He was diagnosed with primary immunodeficiency and chronic granulomatous disease (missense mutation in exon 1 J of the CYBB gene in the hemizygous state: c.1169 > T,CCC > CTC, p.Pro390Leu).

He had a positive family history. The patient's mother suffered from pyelonephritis and arthritis. Her three brothers died in childhood: one of them died of systemic lupus erythematosus at the age of 9, the second from respiratory infection when he was 1.5 years old, and the third at 3 months (the cause unknown). Chronic granulomatous disease had not been diagnosed due to the lack of diagnostic methods at that time; however, the association of the disease with autoimmune disorders and severe life-threatening infections at an early age was characteristic of the disease [25–27]. At the age of 1 year, our patient had contact with a TBC patient; he was operated

Starting with the second year of life, the child suffered from recurrent bacterial infections in variable locations, which were typical of chronic granulomatous disease, paronychia, balanoposthitis, purulent otitis media, pneumonia, purulent lymphadenitis, furunculosis, abscesses of the anterior abdominal wall, and liver abscesses with inoculation of mainly catalase-positive microorganisms (characteristic of granuloma-

When the patient was 5 years of age, a secondary immunodeficiency condition was suspected, but no further examinations were carried out. The diagnosis of primary immunodeficiency was made at the age of 14 years; the genetic test was

Renal damage in chronic granulomatous disease is frequent and is usually associ-

In addition to infectious complications, the patient also had inflammatory complications affecting the gastrointestinal tract in the form of chronic gastroduo-

ated with obstruction and urinary tract infections [30, 31]. However, there are reported cases of glomerulonephritis associated with granulomatous disease [33]. Our patient had various types of urinary tract problems, namely, episodes of urinary tract infection since the age of 5 years; diagnosis of acute glomerulonephritis with nephritic syndrome when he was 11 years old; urolithiasis since the age of 14 years and secondary chronic glomerulonephritis, hematuric form with preserved renal function; nephrobiopsy revealing IgA nephropathy; segmental and complete glomerulosclerosis; expressed tubular fibrosis; arteriosclerosis; and diffuse chronic tubulointerstitial nephritis. The patient has had stage 2 chronic kidney disease (GFR 44–61 ml/min) to date, with moderate positive dynamic and response to therapy

In conclusion, although GIN is rare, it is a disease most probably underestimated in frequency in pediatric practice; the variety of etiological causes of GIN, the absence of noninvasive diagnostic methods, as well as the possibility of

denitis, although intestinal lesions are considered more frequent [30–32].

tous disease) [28, 29]. The patient had no infections of fungal etiology.

some cases presenting in adulthood have also been reported [23, 24].

**106**

Galina Makovetskaya, Lilia Mazur and Elena Balashova\* Samara State Medical University, Samara, Russia

\*Address all correspondence to: mine22@yandex.ru

© 2019 The Author(s). Licensee IntechOpen. This chapter is distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/ by/3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
