A case of dorsal agenesis of pancreas associated with unilateral renal agenesis, unicornuate uterus, and ovarian ectopia: A brief review and learning points

Bhandari, Arindam; Mandal, Samrat

doi:10.4103/ijri.ijri_165_19

Cited by 7 publications

(4 citation statements)

References 16 publications

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“…Its diagnostic efficiency is however limited by the inability to visualize the tail and body of the pancreas due to an overlying bowel gas pattern. 11 Our patient’s abdominal pain was typical of pancreatic pain; thus, CECT of the abdomen was our first modality. Abdominal CT can detect ADP but is not able to provide enough information on the ductal anatomy.…”

Section: Discussionmentioning

confidence: 89%

Failure to Thrive in a Middle-Aged Female: A Case of Congenital Incomplete Pancreas From a Rare Genetic Defect

Ugonabo

Turki

Kheetan

et al. 2023

Journal of Investigative Medicine High Impact Case Reports

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Hepatocyte nuclear factor-1 beta (HNF1B) gene is predominantly expressed in the liver, kidney, lung, genitourinary tract, and pancreas. It is an important transcription factor that regulates pancreas development. Mutation or absence of this gene is rare and can cause incomplete pancreatic development known as the agenesis of the dorsal pancreas. This rare genetic abnormality is associated with other disorders like maturity-onset diabetes of the young, abnormal liver function tests, genitourinary tract malformation, pancreatitis, and renal cysts. Diagnosing this genetic abnormality is difficult, especially in patients presenting with symptoms specific to only one system. Management is based on disease manifestation and involves a multidisciplinary approach. Our case describes a 51-year-old female with poorly controlled diabetes mellitus and Mullerian duct anomalies who presented with abdominal pain, fatigue, dizziness, and electrolyte derangement. Contrast-enhanced computed tomography (CECT) of the abdomen showed a multicystic kidney and a pancreatic head with a missing body and tail. Further workup revealed an HNF1B mutation.

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Section: Discussionmentioning

confidence: 89%

Failure to Thrive in a Middle-Aged Female: A Case of Congenital Incomplete Pancreas From a Rare Genetic Defect

Ugonabo

Turki

Kheetan

et al. 2023

Journal of Investigative Medicine High Impact Case Reports

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“…The first case was reported in 1911 and was based on an autopsy. Only 106 such cases were reported between 1911 and 2015 [ 7 ]. The condition may exhibit autosomal dominant, X-linked dominant, or sporadic inheritance.…”

Section: Discussionmentioning

confidence: 99%

The Role of Cross-Sectional Imaging in the Diagnosis of Agenesis of the Dorsal Pancreas: A Case Series

Jha¹,

Prasad²,

Kumar³

et al. 2023

Cureus

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Background Agenesis of the dorsal pancreas is a rare entity and is caused due to the defective embryological development of the pancreas. The clinical manifestations may range from diabetes mellitus, pancreatitis, and abdominal pain to no symptoms at all. We here present a case series of 10 cases with complete or partial agenesis of the dorsal pancreas. Objectives To correlate the clinical symptoms in the patients with the dorsal agenesis of the pancreas, to study any biochemical abnormality present with the dorsal agenesis of the pancreas, and to look for other coexistent finding in the patients. Results We observed that out of 10 patients, six were males and four were females. Four had symptoms related to the pancreas and six were discovered incidentally. Diabetes mellitus was present in five patients, seven patients had pain in the abdomen, and jaundice was seen in three patients. Out of 10 patients, four had complete agenesis and six had partial agenesis of the dorsal pancreas. Conclusions We conclude that the diagnosis of this rare entity and establishing its association with clinical conditions like diabetes mellitus and non-specific abdomen pain with the aid of cross-sectional imaging helps in the better evaluation and management of the patients.

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“…Генетические синдромы, сочетающиеся с АгП, в 31% случаев ассоциируются с другими врождёнными и внепочечными аномалиями почек и мочевыводящих путей, включающими преимущественно пороки развития желудочно-кишечного тракта, например, полную дорсальную агенезию поджелудочной железы, сердца и скелетно-мышечной системы [5,15,30,31]. При этом аномалии органов желудочно-кишечного тракта при агенезии одной почки были выявлены у 16% пациентов, сердца -у 14%, скелетно-мышечной системы -у 13%.…”

Section: другие формы патологии сочетающиеся с односторонней агенезие...unclassified

Diseases and syndromes associated with unilateral renal agenesis in children

Romashova

2024

RPJ

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The incidence of congenital malformations is increasing annually, with a single kidney developmental disorder accounting for 4–8% of urinary system malformations. If the contralateral organ is normal, agenesis of the kidney is not clinically apparent and is usually detected during a preventive examination of the child or during an examination for combined anomalies of the genitourinary and urinary system.This pathology occurs due to a disruption of the interstitial interaction between the ureteral bud and the metanephrogenic tissue from 4th to 8th gestation weeks. By this time, the mesonephral (Wolff) ducts are already fully formed, in contrast to the paramesonephral (Müllerian) ducts, which develop only by the 5th week of the intrauterine period, that is, in the period of high risk of malformations of the urinary system. Accordingly, anomalies of the female genital system are more common than those of the male one, with concomitant agenesis of the ipsilateral kidney. Diagnosis of unilateral agenesis of the kidney is possible when performing routine antenatal screening or conducting preventive examinations at decreed dates. In girls, the most common genital anomalies are true unicornuate uterus (65%), bicornuate uterus with one rudimentary horn (7.3%), atrophy of one fallopian tube and ovary, absence or hypoplasia of the vagina, and vaginal doubling. In boys with unilateral agenesis of the kidney, the seminal vesicles, prostate gland, and testicular appendage may be rudimentary or absent. Agenesis of the kidney is a component of such genetic syndromes as OHVIRA, Kallman, Zinner, and Mayer–Rokitansky–Küster–Hauser syndromes. It is also combined with other congenital anomalies of the kidney and urinary tract and extrarenal anomalies, including mainly malformations of the gastrointestinal tract, heart and musculoskeletal system. Consequently, children with this pathology should be fully screened to rule out associated malformations and anomalies.

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A case of dorsal agenesis of pancreas associated with unilateral renal agenesis, unicornuate uterus, and ovarian ectopia: A brief review and learning points

Cited by 7 publications

References 16 publications

Failure to Thrive in a Middle-Aged Female: A Case of Congenital Incomplete Pancreas From a Rare Genetic Defect

Failure to Thrive in a Middle-Aged Female: A Case of Congenital Incomplete Pancreas From a Rare Genetic Defect

The Role of Cross-Sectional Imaging in the Diagnosis of Agenesis of the Dorsal Pancreas: A Case Series

Diseases and syndromes associated with unilateral renal agenesis in children

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