[Diagnosis of Alport syndrome]

Diagnosis of Alport syndrome or Thin basement membrane disease is suggested first of all by the clinical picture, the presence of neurisensorial hypoacusia and/or ocular abnormalities, and the family history which should be as accurate as possible involving the largest number possible of family members to recognize the transmission modalities, i.e. X-linked or autosomal. Renal biopsy remains the main tool to confirm the diagnosis and requires electron microscopy observation and collagen IV alpha chains investigation on renal tissue by means of specific antibodies. Skin biopsy is a useful and less invasive tool in families with X-linked Alport syndrome and can substitute renal biopsy in childhood as well as in patients with contraindication to renal biopsy. Confocal microscopy is mandatory to reduce the risk of false negative results in patients with segmental expression of alpha chains. Genetic analysis is at present indicated for studying subjects at risk for family planning or possible kidney donation but new techniques (Next Generation Sequencing) might increase their use in clinical practice

Headache and kidney transplantation: an intriguing relationship

Several studies investigated the correlation between renal and neurological functions and their relative interactions, the so-called “kidney-brain crosstalk.” Patients with renal impairment often show neurological complications. Similarly, subjects undergoing to kidney transplantation are usually affected by several associated pathologies and neurological comorbidities usually affect 20% of this population. Among the most prevalent neurological complications, several reports describe different headache typologies, from migraine with aura to dialysis headache. In one of the largest studies performed on this topic, evaluating more than 4000 kidney transplant patients, headache was the second factor influencing quality of life, following only sexual or psychological pathologies [1]. However, few data are available about the specific characteristics of headache in patients submitted to kidney transplantation