Ischiospinal dysostosis (ISD) is a recently described entity characterized by ischial hypoplasia and spinal segmental anomalies. [ncbi.nlm.nih.gov]

Most of these diseases are rare, and interpreting the resultant plethora of disease-causing mutations requires a methodical and meticulous approach to differential diagnosis. [ncbi.nlm.nih.gov]

He was admitted at that age because of progressive respiratory problems, with Cheyne-Stokes respiration and bilateral vocal cord paralysis. Terminal renal failure with cystic renal disease was diagnosed at the age of 14 years. [ncbi.nlm.nih.gov]

The clinical features associated with cilia dysfunction can include such phenotypes as polycystic kidneys, skeletal abnormalities, blindness, anosmia, and obesity. [ncbi.nlm.nih.gov]

A patient with end-stage renal disease on maintenance hemodialysis developed sudden severe abdominal pain and distension. [ncbi.nlm.nih.gov]

The patient reported nausea, vomiting, severe abdominal pain, and loose stools. [revistanefrologia.com]

The most common mode of presentation was abdominal pain followed by hypertension, urinary tract infection, chronic renal failure and palpable abdominal mass, in decreasing order. [ncbi.nlm.nih.gov]

The condition is usually found during a prenatal ultrasound or when a doctor discovers an abdominal mass during a routine physical examination. The diagnosis of multicystic dysplastic kidney is usually made with an ultrasound examination. [nationwidechildrens.org]

masses; presents as flank mass or pyelonephritis In bilateral disease, neonates may also display oligohydramnios and pulmonary hypoplasia If blastema present, patient is at a slightly higher risk for Wilms tumor Segmental dysplasia is seen in children [pathologyoutlines.com]

masses that are not tender to touch Ultrasound Autosomal recessive polycystic kidney disease ( ARPKD ) Autosomal dominant polycystic kidney disease ( ADPKD ) In adults: enlarged kidneys with multiple cysts of varying sizes ( anechoic masses) In children [amboss.com]

The patient presented with a subcutaneous nodule, which led to discovery of a large primary tumor in the left kidney. ACKD was present in the atrophic right kidney. [ncbi.nlm.nih.gov]

[…] hemodialysis for less than 3 years only (14 months prior to receiving a functional renal transplant which lasted 8 years, followed by 18 additional months of dialysis), before the diagnosis of ACKD was made following an episode of flank pain with gross hematuria [ncbi.nlm.nih.gov]

Hematuria is also managed conservatively with bedrest and intravenous hydration, and most episodes of hematuria are self-limiting and last 2 to 7 days. [mdedge.com]

Renal biopsy showed juxtaglomerular hyperplasia, heavy subintimal deposits and C3 and IgG in preglomerular arteriolar walls, and degenerative changes in the tubules, including loss of brush border and "macula densa-like" lesions. [ncbi.nlm.nih.gov]