Alport syndrome is a hereditary disease characterized by glomerulopathy, manifested by hematuria and/or proteinuria, progressive decline in renal function, often combined with hearing and vision pathology. This article presents a clinical case of spontaneous opening of the anterior lens capsule in a patient with Alport syndrome, accompanied by uveitis and ophthalmic hypertension, and describes the features of the surgical aid and the postoperative period.
Синдром Альпорта — наследственное заболевание, характеризующееся гломерулопатией, проявляющееся гематурией и/или протеинурией, прогрессирующим снижением почечных функций, часто сочетающимся с патологией слуха и зрения. В статье представлен клинический случай самопроизвольного вскрытия передней капсулы хрусталика у пациента с синдромом Альпорта, которое сопровождалось увеитом и офтальмогипертензией; описаны особенности хирургического пособия и течения послеоперационного периода.

The authors present a case of a thirty-eight-year-old patient with Alport syndrome. The patient had several ocular symptoms of the disease and has been treated for systemic problems in connection with Alport syndrome since he was fifteen years old. At that age the patient also underwent a kidney transplant in order to deal with renal insufficiency. To date, he still uses immunosuppressants and antihypertensives. Furthermore, the patient suffers from perceptive deafness. The patient visited our clinic in 2021 with a request to solve his high refractive error, in which the diopters were so high that it was not possible to place them in spectacles. The patient\'s best corrected visual acuity was 0.6 with -8.0sph/-4.0cyl/ax15 in the right eye and 0.7partim with -8.0sph/-4.0cyl/ax155 in the left eye. The autorefractometer values were -6.25sph/-6.75cyl/ax17 in the right eye and -6.75sph/-6.5cyl/ax155 in the left eye. During the eye examination we found a number of ocular manifestations that are typical of Alport syndrome. On the cornea there were opacities as a residue of corneal erosions, and at one of the following check-ups we also found a newly developed corneal erosion. Subsequently, we found an anterior lenticonus and incipient cataract. Upon performing OCT, a typical temporal macular atrophy was evident. Fundus examination in artificial mydriasis showed just a minimal manifestation of fleck retinopathy. Due to the clinical manifestation we decided to perform cataract surgery and implant a monofocal toric intraocular lens in both eyes. There were no complications during the operations, however the surgeon registered a non-standard structure of the lens capsule. The capsule was more fragile, and performing capsulorhexis was much more complicated. A week after the surgery, higher cylinder diopters were still present. A decrease of the higher diopters was noticeable one month after surgery. The time interval between the first operation and the second operation was one month. The patient was highly satisfied with result, and uncorrected visual acuity improved by over four lines. After surgery the patient needed low diopters for near as well as far distance. In the case of this patient, the ocular manifestations were detected and treated in adulthood. Nevertheless, early detection of ocular symptoms of Alport syndrome in young patients before renal failure could lead to timely start of the treatment and delay a possible renal transplant. In case of any suspicion of Alport syndrome it is advised to send the patient to a pediatrician, and at an older age to an internal medicine specialist, for further examination.

Relapses or new-onset IgA nephropathy (IgAN) have been documented in patients after vaccination against SARS-CoV-2; however, only one adult patient has been reported in whom pre-existing IgAN worsened during coronavirus disease 2019 (COVID-19).
We present the first pediatric case with biopsy-proven IgAN and genetically confirmed Alport syndrome, who developed end-stage kidney disease after an exacerbation of IgAN associated with COVID-19. The patient`s basal serum creatinine was 0.7-0.9 mg/dL before infection. He had not been vaccinated against COVID-19. He was admitted to the hospital with edema, hypertension, an elevated serum creatinine of 4.7 mg/ dL, and massive proteinuria. Three months before admission, he had been admitted to another hospital with COVID -19 and an elevated serum creatinine (1.9 mg/dL), but no biopsy had been performed at that time. The kidney biopsy revealed IgAN with 50% fibrocellular crescents with sclerosed glomeruli, tubular atrophy, and interstitial fibrosis. His serum creatinine did not decrease even after five administrations of pulse steroids, and hemodialysis was initiated.
In conclusion, COVID -19 may pose a high risk for exacerbation of pre-existing glomerular disease. It is therefore necessary to closely monitor the kidney function of patients with underlying glomerulonephritis during and after COVID-19 and consider an early biopsy if serum creatinine does not return to baseline levels. In addition, this case report highlights the clinical importance of the co-occurence of IgAN and Alport syndrome.

BACKGROUND: Genetic factors contribute to chronic kidney disease (CKD) and end-stage renal disease (ESRD). Advances in genetic testing have enabled the identification of hereditary kidney diseases, including those caused by LMX1B mutations. LMX1B mutations can lead to nail-patella syndrome (NPS) or nail-patella-like renal disease (NPLRD) with only renal manifestations.
METHODS: The proband was a 13-year-old female who was diagnosed with nephrotic syndrome at the age of 6. Then she began intermittent hormone and drug therapy. When she was 13 years old, she was admitted to our hospital due to sudden chest tightness, which progressed to end-stage kidney disease (ESRD), requiring kidney replacement therapy. Whole-Exome Sequencing (WES) results suggest the presence of LMX1B gene mutation, c.737G > T, p.Arg246Leu. Tracing her family history, we found that her father, grandmother, uncle and 2 cousins all had hematuria, or proteinuria. In addition to the grandmother, a total of 9 members of the family performed WES. The members with kidney involved all carry the mutated gene. Healthy members did not have the mutated gene. It is characterized by co-segregation of genotype and phenotype. We followed the family for 9 year, the father developed ESRD at the age of 50 and started hemodialysis treatment. The rest patients had normal renal function. No extra-renal manifestations associated with NPS were found in any member of the family.
CONCLUSIONS: This study has successfully identified missense mutation, c.737G > T (p.Arg246Leu) in the homeodomain, which appears to be responsible for isolated nephropathy in the studied family. The arginine to leucine change at codon 246 likely disrupts the DNA-binding homeodomain of LMX1B. Previous research has documented 2 types of mutations at codon R246, namely R246Q and R246P, which are known to cause NPLRD. The newly discovered mutation, R246L, is likely to be another novel mutation associated with NPLRD, thus expanding the range of mutations at the crucial renal-critical codon 246 that contribute to the development of NPLRD. Furthermore, our findings suggest that any missense mutation occurring at the 246th amino acid position within the homeodomain of the LMX1B gene has the potential to lead to NPLRD.

患儿　女，13岁，因“血尿9年余，胃代食管术后贫血1年”就诊东部战区总医院儿科。患儿9年余前出现血尿，通过皮肤活检诊断X连锁Alport综合征，1年前出现进食哽咽，于外院行食管病损切除+食管良性肿瘤切除+胃代食管术，组织病理提示平滑肌瘤，术后出现血红蛋白降低。患儿贫血貌，此次入院进一步完善基因检测发现COL4A5基因外显子1杂合缺失及COL4A6基因外显子1-2杂合缺失，变异来源于母亲。结合患儿临床表现及基因结果，该患儿最终诊断为X连锁Alport综合征伴食管平滑肌瘤、胃代食管术后、缺铁性贫血。.

A puzzling case of thrombocytopenia and giant unusual platelets in blood smear reveals a past diagnosis of Alport syndrome in 44-year-old woman with end-stage renal disease and abnormal CBC values.

BACKGROUND: Autosomal recessive Alport syndrome (ARAS) is an hereditary heterogeneous disease that poses a serious risk to pregnant women.
METHODS: We reported 2 cases of pregnancy with progressive proteinuria. The case 1 was a 21-year-old woman with 24-h proteinuria increased from 2.03 to 11.72 g at 13 to 35 weeks of gestation, and the case 2 was a 28-year-old woman with 24-h proteinuria increased from 2.10 to 9.32 g at 8 to 36 weeks of gestation. In advanced stage of pregnancy, the fetal development was smaller than the gestational age.
METHODS: Sanger sequencing showed that novel compound heterozygous mutations [c.1315 G>T (p.G439C) and c.4847 G>A (p.C1616Y)] of the collagen type IV alpha 3 chain (COL4A3) gene were found in the 2 cases. Renal puncture pathology confirmed the diagnosis of ARAS.
METHODS: The 2 cases were treated with albumin, compounded amino acids, calcium, vitamin D, and low molecular weight heparin in addition to conventional treatment during pregnancy. Pregnancy was terminated by cesarean section at 36 to 37 weeks of gestation. After delivery, the patients were treated with Losartan for anti-proteinuric therapy for 1 year.
RESULTS: The neonatal weights and Apgar scores were normal. The patients recovered well and 24-h proteinuria decreased to pre-pregnancy level.
CONCLUSIONS: When pregnant women present with a persistent increasing proteinuria, ARAS needs to be considered. Sanger sequencing is useful to assist in the diagnosis of ARAS. Multidisciplinary treatments from nephrologists and gynecologists are needed to ensure the safety of pregnancy and the fetus.

Historically, due to the lack of distinct clinical symptoms, Alport syndrome, a hereditary kidney disease prevalent in children and a leading cause of kidney failure, has often been misdiagnosed as other kidney conditions.
This article presents a comprehensive review and analysis of clinical data concerning a child diagnosed with Alport syndrome, where nephrotic syndrome served as the primary manifestation. The male child in this case exhibited symptoms starting at the age of 6, initially diagnosed as nephrotic syndrome. Consequently, oral steroid medication was administered, proving ineffective. Due to persistent proteinuria and microscopic hematuria, a renal biopsy was performed. Immunofluorescence staining revealed no abnormal expression of the α3, α4, and α5 chains of type IV collagen. Notably, electron microscopy revealed the basement membrane to be partially torn and arachnoid. Genetic testing indicated a hemizygous COL4A5 acceptor-splice-site mutation c.4707-1(IVS50)G > A, inherited from his mother.
This specific mutated locus, being the first of its kind reported, adds valuable information to the existing gene mutation spectrum of Alport syndrome. Consequently, it emphasizes the importance for clinicians to deepen their understanding of rare kidney diseases, contributing to enhanced diagnostic accuracy and improved patient care.

Alport syndrome (AS) is caused by mutations in type IV collagen genes that typically target and compromise the integrity of basement membranes in kidney, ocular, and sensorineural cochlear tissues. Type IV and V collagens are also integral components of arterial walls, and whereas collagenopathies including AS are implicated in aortic disease, the incidence of aortic aneurysm in AS is unknown probably because of underreporting. Consequently, AS is not presently considered an independent risk factor for aortic aneurysm and more detailed case studies including histological evidence of basement membrane abnormalities are needed to determine such a possible linkage.
Here, we present unique histopathological findings of an ascending aortic aneurysm collected at the time of surgery from an AS patient wherein hypertension was the only other known risk factor.
The studies reveal classical histological features of aortic aneurysm, including atheroma, lymphocytic infiltration, elastin disruption, and myxoid degeneration with probable AS association.

OBJECTIVE: The purpose of this study was to describe the surgical management of bilateral giant full-thickness macular hole with sudden onset two months after cataract surgery in a patient with Alport syndrome.
METHODS: This was an observational, single-case report.
RESULTS: A 54-year-old woman with a history of Alport syndrome presented with severe bilateral visual loss two months after cataract surgery. The diagnosis of bilateral giant full-thickness macular hole was made. We found the absence of the internal limiting membrane and the inability to lift and peel a continuous posterior hyaloid sheet during surgical management with 25-gauge pars plana vitrectomy (left eye). Amniotic membrane grafting followed by gas tamponade were performed for hole closure. The hole remained closed but vision was poorly restored two months after.
CONCLUSIONS: Cataract surgery in patients with Alport syndrome could promote early development of giant full-thickness macular hole. Collagen defects could underlie internal limiting membrane absence and the inability to properly peel the posterior hyaloid.