A case report of Potter’s syndrome in a newborn
Introduction. Potter’s sequence is a very rare and severe syndromic complex that includes congenital kidney defects leading to oligohydramnios, lung hypoplasia and structural skeletal disorders. Clinical case presentation: observation of a boy born from the 5th pregnancy to the mother at 37 weeks. A...
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| Format: | Article |
| Language: | Russian |
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Remedium Group LLC
2021-11-01
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| Series: | Медицинский совет |
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| Online Access: | https://www.med-sovet.pro/jour/article/view/6507 |
| _version_ | 1797841754307690496 |
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| author | I. H. Shidakov A. T. Shavtikova F. A. Dzhibabova |
| author_facet | I. H. Shidakov A. T. Shavtikova F. A. Dzhibabova |
| author_sort | I. H. Shidakov |
| collection | DOAJ |
| description | Introduction. Potter’s sequence is a very rare and severe syndromic complex that includes congenital kidney defects leading to oligohydramnios, lung hypoplasia and structural skeletal disorders. Clinical case presentation: observation of a boy born from the 5th pregnancy to the mother at 37 weeks. Antenatally, the fetus was found to have bilateral renal and urinary bladder agenesis, malformations of the limbs, but the parents refused to terminate the pregnancy. After birth, the child was diagnosed with Potter’s syndrome with severe hypoplasia of the lungs, which required mechanical ventilation. In 2 hours after birth, the child developed a tension pneumothorax, which was arrested by performing drainage of the pleural cavity. During the day, the patient received complex treatment in the intensive care unit, despite which, by the 2nd day of life, the death of the child occurred. Currently, there are no guidelines for the treatment of Potter syndrome with proven positive long-term outcomes.Discussion. Children with Potter syndrome do not have the same set of symptoms, but they develop a chain of events leading to a common ultimate result - decreased amount of amniotic fluid. Abnormalities leading to oligohydramnios may include severe hypoplasia, dysplasia, polycystic, obstructive uropathy or renal agenesis. In most cases, the disease occurs sporadically, but there are also forms with transmission of the disorder through successive generations: autosomal dominant or recessive inheritance of polycystic disease, hereditary renal dysplasia caused by mutations in RET, UPK3A genes and other chromosomal abnormalities.Conclusion. Potter syndrome is a set of severe syndromes manifested by abnormalities in the development of kidneys, oligohydramnios, leading to lung hypoplasia, skeletal disorders and other congenital anomalies. The severity of congenital defects included in the set depends on the time periods when oligohydramnios occurred. Despite the availability of experimental therapies, the disease is now considered to be fatal. |
| first_indexed | 2024-04-09T16:36:14Z |
| format | Article |
| id | doaj.art-3c7b47ac50744ed9ace0ea33c9936066 |
| institution | Directory Open Access Journal |
| issn | 2079-701X 2658-5790 |
| language | Russian |
| last_indexed | 2024-04-09T16:36:14Z |
| publishDate | 2021-11-01 |
| publisher | Remedium Group LLC |
| record_format | Article |
| series | Медицинский совет |
| spelling | doaj.art-3c7b47ac50744ed9ace0ea33c99360662023-04-23T06:56:53ZrusRemedium Group LLCМедицинский совет2079-701X2658-57902021-11-0101724224510.21518/2079-701X-2021-17-242-2455877A case report of Potter’s syndrome in a newbornI. H. Shidakov0A. T. Shavtikova1F. A. Dzhibabova2Republican Perinatal CenterRepublican Perinatal CenterRepublican Perinatal CenterIntroduction. Potter’s sequence is a very rare and severe syndromic complex that includes congenital kidney defects leading to oligohydramnios, lung hypoplasia and structural skeletal disorders. Clinical case presentation: observation of a boy born from the 5th pregnancy to the mother at 37 weeks. Antenatally, the fetus was found to have bilateral renal and urinary bladder agenesis, malformations of the limbs, but the parents refused to terminate the pregnancy. After birth, the child was diagnosed with Potter’s syndrome with severe hypoplasia of the lungs, which required mechanical ventilation. In 2 hours after birth, the child developed a tension pneumothorax, which was arrested by performing drainage of the pleural cavity. During the day, the patient received complex treatment in the intensive care unit, despite which, by the 2nd day of life, the death of the child occurred. Currently, there are no guidelines for the treatment of Potter syndrome with proven positive long-term outcomes.Discussion. Children with Potter syndrome do not have the same set of symptoms, but they develop a chain of events leading to a common ultimate result - decreased amount of amniotic fluid. Abnormalities leading to oligohydramnios may include severe hypoplasia, dysplasia, polycystic, obstructive uropathy or renal agenesis. In most cases, the disease occurs sporadically, but there are also forms with transmission of the disorder through successive generations: autosomal dominant or recessive inheritance of polycystic disease, hereditary renal dysplasia caused by mutations in RET, UPK3A genes and other chromosomal abnormalities.Conclusion. Potter syndrome is a set of severe syndromes manifested by abnormalities in the development of kidneys, oligohydramnios, leading to lung hypoplasia, skeletal disorders and other congenital anomalies. The severity of congenital defects included in the set depends on the time periods when oligohydramnios occurred. Despite the availability of experimental therapies, the disease is now considered to be fatal.https://www.med-sovet.pro/jour/article/view/6507renal agenesisoligohydramniospulmonary hypoplasiacongenital malformationspotter’s syndrome |
| spellingShingle | I. H. Shidakov A. T. Shavtikova F. A. Dzhibabova A case report of Potter’s syndrome in a newborn Медицинский совет renal agenesis oligohydramnios pulmonary hypoplasia congenital malformations potter’s syndrome |
| title | A case report of Potter’s syndrome in a newborn |
| title_full | A case report of Potter’s syndrome in a newborn |
| title_fullStr | A case report of Potter’s syndrome in a newborn |
| title_full_unstemmed | A case report of Potter’s syndrome in a newborn |
| title_short | A case report of Potter’s syndrome in a newborn |
| title_sort | case report of potter s syndrome in a newborn |
| topic | renal agenesis oligohydramnios pulmonary hypoplasia congenital malformations potter’s syndrome |
| url | https://www.med-sovet.pro/jour/article/view/6507 |
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