She gives birth with Alstrom’s syndrome, it is the first time in the world – Medicine

The baby born in these days at the Sant’Anna hospital of the City of Health in Turin weighs almost two kilos, and is fine, the first case in the world of childbirth for a woman suffering from a very rare genetic disease, Alstrom’s syndrome. This was announced by Professor Chiara Benedetto, director of University Gynecology and Obstetrics 1.

The patient, a 26-year-old, was assisted throughout her gestation at the outpatient clinics for high-risk pregnancies belonging to the Division directed by Professor Benedetto, in multidisciplinary collaboration with the internist colleagues of Sant’Anna, coordinated by Doctor Aldo Maina, and the Service of Clinical Genetics of the City of Health of Turin directed by Professor Barbara Pasini. “We assisted the lady throughout her pregnancy – says Professor Benedetto -. When, in the eighth month, we noticed the worsening of the maternal cardiovascular and renal functions, however slight, we proceeded with the caesarean section. We are happy to have helped to carry out the dream of this new mother is to be able to give hope to all people suffering from rare diseases “, about 2 million in Italy.

Multisystem disease, due to the mutation of the ALMS1 gene, Alström’s syndrome is transmitted only if both parents are affected, or carriers, and which occurs shortly after birth. It is characterized by severe vision and hearing problems, a tendency to obesity, diabetes, heart, kidney and liver dysfunction. And often also from infertility. Worldwide, only 450 cases have been described and no pregnancies have ever been reported in the scientific literature.

“There are no specific therapies – explains Professor Benedetto -, which is why prevention is really very important, that is, to intervene early to improve the quality of life of patients”.

Alström’s syndrome is one of the 8,000 atypical diseases that affect a million people worldwide, 40% of whom are under the age of 18. Together with research, the challenge, especially in these months of pandemic, is assistance. And the telemedicine services, on which the Recovery Plan focuses, could become an opportunity. Annalisa Scopinaro, president of the Federation of Associations of People with Rare Diseases of Italy (Uniamo), points out, asking for special attention to rare patients “in all public health measures”. And he hopes that they will be “taken care of especially at home, where they can lead a life of the highest quality possible”. The partnership with the national federation of nursing professions (Fnopi) is moving in this direction, while the independent organization Salutequità asks to “finally make the new Essential Levels of Assistance payable throughout the national territory”. (HANDLE).

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