Familial multicystic dysplastic kidney

Watanabe, Toru; Yamazaki, Akira; Kurabayashi, Takumi; Hanaoka, J

doi:10.1007/s00467-005-1881-1

Cited by 8 publications

(6 citation statements)

References 9 publications

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“…Bilateral MCDK is rare and usually fatal [1,2,4]. Although familial cases have been identified, MCDK is generally accepted to be a sporadic disease [1,2,[5][6][7][8]. MCDK is a nonfunctioning tissue characterized by multiple varying sized noncommunicating cysts on US examination [1,9,10].…”

Section: Introductionmentioning

confidence: 99%

Unilateral multicystic dysplastic kidney: single-center experience

Kıyak¹,

Yılmaz²,

Turhan³

et al. 2009

Pediatr Nephrol

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Multicystic dysplastic kidney (MCDK) is one of the most common renal abnormalities in children. The aim of our study was to evaluate the clinical course and outcome of patients with MCDK. Ninety pediatric patients with unilateral MCDK followed by the Pediatric Nephrology Department of Bakirkoy Maternity and Children's Hospital between 1990 and 2007 were included in this retrospective study. The dimercaptosuccinic acid radionuclide scan revealed no function in MCDK in all of our patients. Voiding cystourethrogram was performed in all patients. Twenty patients (22.2%) had abnormalities in the contralateral kidney. Nephrectomy was performed in 41 patients (45.5%). Twelve patients had undergone routine nephrectomy before 1996. Since then, patients have been followed up conservatively, and nephrectomy has been performed only when indicated. Indication of nephrectomy was arterial hypertension in 16 patients (23.1%), recurrent urinary tract infection (UTI) in 11 (15.9%), and severe abdominal pain in two (2.8%). Hypertension was noted within the first year of life in all patients except two. MCDK completely involuted in 39.3% within 48 months. There was no malignant transformation, proteinuria, or renal failure. In conclusion, hypertension is often noticed in infants with MCDK. Uninephrectomy leads to normalization. However, prospective studies are needed to exclude a spontaneous improvement of hypertension.

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Section: Introductionmentioning

confidence: 99%

Unilateral multicystic dysplastic kidney: single-center experience

Kıyak¹,

Yılmaz²,

Turhan³

et al. 2009

Pediatr Nephrol

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“…We have reported lack in phenotype–genotype correlation in a large cohort of WRS. In this cohort, lack of correlation was both intra- and interfamilial ( 4 ). Variation in the onset, nature and severity of a WRS comorbidities is seen in many cohorts of WRS ( 10 ).…”

Section: Discussionmentioning

confidence: 78%

“…It is characterized by multiple non-communicating cysts within the kidney. Unlike other cystic kidney diseases, such as the dominant and recessive forms of polycystic kidney where there is a clear inherited pattern, MCDK occurs sporadically and can remain clinically undetected and asymptomatic ( 4 ). MCDK is a known associating feature of maturity-onset diabetes of the young type V (MODY5) caused by mutations in the hepatocyte nuclear factor 1-beta ( 5 ).…”

Section: Discussionmentioning

confidence: 99%

Multicystic dysplastic kidney: a new association of Wolcott–Rallison syndrome

Deeb

Al-Zidgali

Ofoegbu

2017

Endocrinology, Diabetes &Amp; Metabolism Case Reports

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Wolcott–Rallison syndrome (WRS) is a rare autosomal recessive disorder due to mutations in the EIF2AK3 gene. It is characterized by permanent neonatal diabetes mellitus, skeletal dysplasia, liver impairment, neutropenia and renal dysfunction. Liver is the most commonly affected organ and liver failure is the commonest cause of death in this syndrome. The EIF2AK3 gene encodes a transmembrane protein PERK, which is important for the cellular response to endoplasmic reticulum (ER) stress. The absence of PERK activity reduces the ER’s abilities to deal with stress, leading to cell death by apoptosis. On acquiring febrile illness, affected patients suffer from liver injury, which may progress into liver failure and death. Renal involvement is less common and is mainly in the form of functional renal impairment at the advanced stage of the disease. Structural renal anomalies have not been reported in WRS. We report a 6-month-old girl who presented with neonatal diabetes on day 1 of life. Her genetic testing confirmed WRS due to missense mutation in the EIF2AK3 gene (c.2867G > A, p.Gly956Glu). Parents are first-degree cousins and both are heterozygous carriers to the mutation. 2 paternal uncles had the same mutation and died of liver disease at 1 and 14 years of age. Neither had a renal disease. She presented with hematuria during a febrile illness at the age of 5 months. Ultrasound scan showed right ectopic multicystic dysplastic kidney (MCDK). To the best of our knowledge, this is the first patient with WRS who is reported to have an MCDK disease.Learning points:Neonatal diabetes should be considered in babies presenting with early hyperglycemia particularly if there is a family history.Genetic diagnosis in neonatal diabetes enables disease confirmation, genetic counseling and anticipation of potential complications during concomitant situations such as acute illness, trauma or major surgery.There is lack of phenotype–genotype correlation in Wolcott–Rallison syndrome.Structural kidney abnormality, in our case MCDK, can be seen in WRS.

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“…It is a developmental renal dysplasia that causes multiple cysts in the kidney. Some patients may present in adulthood with a multiloculated cystic mass with a central region of solid tissue that contains cartilage, un-differentiated mesenchyme, immature glomeruli, and primitive tubules [22-25]. The affected kidney is nonfunctioning.…”

Section: Discussionmentioning

confidence: 99%

Multiple unilateral subcapsular cortical hemorrhagic cystic disease of the kidney: CT and MRI findings and clinical characteristic

et al. 2019

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Purpose The aim of this study was to clarify the radiologic and clinical characteristics of multiple unilateral subcapsular cortical hemorrhagic cystic disease of the kidney. Method Fourteen patients with unique and characteristic multiple hemorrhagic subcapsular cortical cysts of the kidney, not categorized in any existing renal cystic diseases, were retrospectively reviewed. The clinical information including age, sex, symptom, family history of renal or renal cystic disease, and laboratory data were collected. CT and MRI findings including distribution, number and size of cysts, and CT attenuation and signal intensity on T1- and T2-weighted MRI of cysts were analyzed. Results All patients except one were young and none had a family history of renal or renal cystic disease. Common clinical symptoms were flank or abdominal pain and hematuria. In all cases, only the left kidney was involved at initial presentation. Cysts were small (median cyst size, 4–15 mm), numerous, and distributed mainly along the subcapsular cortex of the kidney. Cysts were hyper-attenuated on unenhanced CT, extremely hypointense on T2-weighted MRI, and mildly hyperintense on T1-weighted MRI. All patients except one had normal renal function. Imaging follow-up revealed stable or mildly progressive disease in seven patients. Two patients developed several hemorrhagic subcapsular cortical cysts in the right kidney at follow-up. Three of five patients with a renal pathology specimen showed concurrent IgA nephropathy. Conclusion We have identified a unique renal cystic disease with multiple unilateral subcapsular cortical hemorrhagic cystic disease of the kidney that has a characteristic manifestation both radiologically and clinically.

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Familial multicystic dysplastic kidney

Cited by 8 publications

References 9 publications

Unilateral multicystic dysplastic kidney: single-center experience

Unilateral multicystic dysplastic kidney: single-center experience

Multicystic dysplastic kidney: a new association of Wolcott–Rallison syndrome

Multiple unilateral subcapsular cortical hemorrhagic cystic disease of the kidney: CT and MRI findings and clinical characteristic

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