{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T07:40:25Z","timestamp":1756280425318,"version":"3.44.0"},"reference-count":12,"publisher":"BMJ","issue":"7","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2021,6,27]]},"published-print":{"date-parts":[[2021,7]]},"abstract":"<jats:p>Polycystic kidney disease (PKD) is a condition typified by multiple renal cysts and renal enlargement. Classification is usually determined by mode of inheritance\u2014autosomal dominant PKD (ADPKD) or autosomal recessive PKD (ARPKD). ARPKD frequently presents in fetal life, but here we report a rare case of a family with two siblings diagnosed with ADPKD manifesting in utero with novel genetic findings. During the first pregnancy, enlarged cystic kidneys were noted at the gestational age (GA) of 18 weeks, which became progressively larger and anyhdramnios ensued by GA of 25 weeks. The couple opted to terminate the pregnancy. The second pregnancy similarly presented with bilateral enlarged cystic kidneys, but amniotic fluid remained normal throughout and she delivered at GA of 36 weeks. Genetic testing revealed the fetus to be heterozygous in AD PKD1, which is known to cause ADPKD and heterozygous for a hypomorphic allele for ADPKD of uncertain significance. The fetus was also found to be heterozygous in the AR PKHD1 gene with a variant not previously described in the literature. Where fetal features consistent with ARPKD are identified in the setting of familial ADPKD, this fetal manifestation of ADPKD, resulting from combined variants in the PKD1 gene, should be considered.<\/jats:p>","DOI":"10.1136\/bcr-2021-242991","type":"journal-article","created":{"date-parts":[[2021,7,21]],"date-time":"2021-07-21T12:58:58Z","timestamp":1626872338000},"page":"e242991","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":2,"title":["Neonatal polycystic kidney disease: a novel variant"],"prefix":"10.1136","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8085-2171","authenticated-orcid":false,"given":"Catherine","family":"Finnegan","sequence":"first","affiliation":[{"name":"Obstetrics and Gynaecology, Royal College of Surgeons in Ireland, Dublin, Ireland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Claire","family":"Murphy","sequence":"additional","affiliation":[{"name":"Departement of Paediatrics, Royal College of Surgeons in Ireland, Dublin, Ireland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fionnuala","family":"Breathnach","sequence":"additional","affiliation":[{"name":"Obstetrics and Gynaecology, Royal College of Surgeons in Ireland, Dublin, Ireland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2021,7,21]]},"reference":[{"key":"2025082700025455000_14.7.e242991.1","doi-asserted-by":"crossref","first-page":"811","DOI":"10.1038\/jhg.2016.58","article-title":"Expanding the mutation spectrum in 130 probands with ARPKD: identification of 62 novel Pkhd1 mutations by Sanger sequencing and MLPA analysis","volume":"61","author":"Melchionda","year":"2016","journal-title":"J Hum Genet"},{"key":"2025082700025455000_14.7.e242991.2","doi-asserted-by":"crossref","DOI":"10.1186\/1471-2350-15-41","article-title":"Novel mutations of PKD genes in the Czech population with autosomal dominant polycystic kidney disease","volume":"15","author":"Obeidova","year":"2014","journal-title":"BMC Med Genet"},{"key":"2025082700025455000_14.7.e242991.3","doi-asserted-by":"publisher","DOI":"10.1038\/ki.2008.686"},{"key":"2025082700025455000_14.7.e242991.4","doi-asserted-by":"publisher","DOI":"10.1681\/ASN.2014101051"},{"key":"2025082700025455000_14.7.e242991.5","doi-asserted-by":"crossref","DOI":"10.1016\/S0140-6736(82)90187-8","article-title":"Prenatal diagnosis of an early manifestation of autosomal dominant adult-type polycystic kidney disease","volume":"2","author":"Zerres","year":"1982","journal-title":"Lancet"},{"key":"2025082700025455000_14.7.e242991.6","doi-asserted-by":"publisher","DOI":"10.1259\/0007-1285-61-731-1072"},{"key":"2025082700025455000_14.7.e242991.7","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.35.1.13"},{"key":"2025082700025455000_14.7.e242991.8","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1185"},{"key":"2025082700025455000_14.7.e242991.9","doi-asserted-by":"crossref","first-page":"689","DOI":"10.1038\/s41436-020-01026-4","article-title":"Biallelic inheritance of hypomorphic PKD1 variants is highly prevalent in very early onset polycystic kidney disease","volume":"23","author":"Durkie","year":"2021","journal-title":"Genet Med"},{"key":"2025082700025455000_14.7.e242991.10","doi-asserted-by":"publisher","DOI":"10.1681\/ASN.2010101080"},{"key":"2025082700025455000_14.7.e242991.11","doi-asserted-by":"crossref","first-page":"1316","DOI":"10.1016\/j.ekir.2020.05.008","article-title":"Reconsidering genetic testing for neonatal polycystic kidney disease","volume":"5","author":"VanNoy","year":"2020","journal-title":"Kidney Int Rep"},{"key":"2025082700025455000_14.7.e242991.12","first-page":"1","article-title":"Bilateral polycystic disease of the kidneys; a follow-up of two hundred and eighty-four patients and their families","volume":"328","author":"Dalgaard","year":"1957","journal-title":"Acta Med Scand Suppl"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2021-242991","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T07:03:06Z","timestamp":1756278186000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2021-242991"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,7]]},"references-count":12,"journal-issue":{"issue":"7","published-online":{"date-parts":[[2021,7,21]]},"published-print":{"date-parts":[[2021,7]]}},"alternative-id":["10.1136\/bcr-2021-242991"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2021-242991","relation":{},"ISSN":["1757-790X"],"issn-type":[{"type":"electronic","value":"1757-790X"}],"subject":[],"published":{"date-parts":[[2021,7]]}}}