Alport syndrome is a rare genetic condition characterized by kidney disease, hearing impairment, and ocular abnormalities. It exhibits various inheritance patterns involving pathogenic variants in COL4A3, COL4A4, and COL4A5 genes. The phenotypes can range from isolated hematuria with a non-progressive or very slowly progressive course to progressive kidney disease with extrarenal abnormalities. Timely diagnosis of Alport syndrome facilitates the early and effective implementation of treatment, as well as genetic counseling. Here, we report the COL4A3 c.765G > A, p.((=)) mutation in three ethnically Azerbaijani, apparently unrelated, consanguineous families from the village of Algeti in the Marneuli region of Georgia. We speculate that this variant could represent a founder mutation within this population and recommend offering genetic testing to Algeti village residents with persistent hematuria.

In this issue, Matthews et al. provide a comprehensive review of published cohorts with heterozygous pathogenic variants in COL4A3 or COL4A4, documenting the wide spectrum of the disease. Due to the extreme phenotypes that patients with heterozygous pathogenic variants in COL4A3 or COL4A4 may show, the disease has been referred to in a variety of ways, including \'autosomal dominant Alport syndrome\', \'thin basement membrane disease\', \'thin basement membrane nephropathy\', \'familial benign hematuria\' and \'carriers of autosomal dominant Alport syndrome\'. This confusion over terminology has prevented nephrologists from being sufficiently aware of the relevance of the entity. Nowadays, however, next-generation sequencing facilitates the diagnosis and it is becoming a relatively frequent finding in haematuric-proteinuric nephropathies of unknown origin, even in non-familial cases. There is a need to raise awareness among nephrologists about the disease in order to improve diagnosis and provide better management for these patients.

Minimal change disease (MCD) is a main cause of the nephrotic syndrome. Thin basement membrane disease (TBMD) is another disease characterized by microscopic hematuria. The present case is a young adult female who presented with classic nephrotic syndrome, but she had microscopic hematuria as well. Hematuria can be part of MCD in 21% of patients, but in this case, histopathological diagnosis confirmed MCD with concurrent TBMD. This was reported only in two cases, up to our literature review. Using steroids resulted in nephrotic syndrome improvement, but microscopic hematuria has persisted, which is mostly related to TBMD rather than a primary part of MCD. Up to our knowledge, this is the first case report of MCD with concurrent TBMD in Arab countries.

We report a case of a 48-year-old male who presented with hematuria of at least 10 years, and has a daughter with hematuria as well. The patient has a history of degenerative hearing loss, decreased vision and cataract formation, but no diabetes, hypertension or proteinuria. A full serology and urology workup was negative for any abnormality. A kidney biopsy for the patient revealed a diagnosis of Alport syndrome but was unable to rule out thin basement membrane disease. The biopsy was inconclusive in making the diagnosis but the patient\'s clinical presentation led to the diagnosis of Alport syndrome. The patient\'s 10-year-old daughter also has hematuria with no clear etiology but now can subsequently be anticipatorily managed for Alport syndrome progression. Due to the rarity of the disease, diagnosis is often missed or delayed by primary care providers especially when no associated proteinuria has yet developed. This can lead to confusion and misdiagnosis with thin basement membrane disease, a generally benign hematuria without kidney failure progression. Additionally, biopsy can be inconclusive in these patients, relying on the physician\'s history and physical examination findings to diagnose. It is important to appropriately diagnose Alport syndrome not only to manage the patient\'s rate of kidney failure progression but also allow for a higher degree of suspicion, screening and intervention in the patient\'s family members. Both the inconclusive nature of kidney biopsies and the usefulness of diagnosis for family member screening are often overlooked in medical literature but are explored in this case.