"Medullary sponge kidney"

BACKGROUND: Nephrocalcinosis (NC) is characterized by an excessive accumulation of calcium deposits in the kidneys. In children, it is often incidentally discovered with an uncertain prognosis. CASE-DIAGNOSIS/TREATMENT: A 3-month-old girl suspected to have a milk protein allergy underwent an ultrasound that revealed increased echogenicity in the kidney pyramids suggestive of medullary NC. At the age of 18 months, imaging findings revealed not only hyperechogenicity in the medulla but also in the cortex...

Medullary sponge kidney (MSK) is a description of radiographic features. However, the pathogenesis of MSK remains unclear. MSK is supposed to be the cause of secondary distal renal tubular acidosis (dRTA), although there are case reports suggesting that MSK is a complication of primary dRTA. In addition to these reports, we report three patients with metabolic acidosis and MSK, in whom primary dRTA is confirmed by molecular genetic analyses of SLC4A1 and ATP6V1B1 genes. With a comprehensive genetics first approach using the 100,000 Genomes Rare Diseases Project dataset the association between MSK and primary dRTA is examined...

A 51-year-old male with a history of Cacchi-Ricci disease and long-standing infection with various species of Borrelia, Babesia, and Bartonella presented with recurrent symptoms of right-sided flank pain. Numerous renal calculi were identified on imaging. The etiology of the calculi had not been previously elucidated. Symptoms intermittently date back to 2002 when uric acid stones were identified. Subsequent calculi analysis revealed calcium oxalate stones. Despite the commonality of nephrolithiasis in patients with Cacchi-Ricci disease, the extreme number of calculi and recurrent presentation of symptoms persisted despite a plethora of medical evaluations, dietary changes, and hereditary testing...

OBJECTIVE: To assess the impact of kidney stone disease (KSD) and its treatment on the health-related quality of life (HRQOL) of high-risk stone formers with hyperparathyroidism, renal tubular acidosis, malabsorptive disease, and medullary sponge kidney. PATIENTS AND METHODS: The Wisconsin Stone Quality of Life questionnaire was used to evaluate HRQOL in 3301 patients with a history of KSD from 16 institutions in North America between 2014 and 2020. Baseline characteristics and medical history were collected from patients, while active KSD was confirmed through radiological imaging...

Chronic pain is a common reason for which people in the USA seek medical care. It is linked to opioid consumption, anxiety and a reduction in quality of life. Over the past 50 years, spinal cord stimulation (SCS) has evolved as a safe and efficacious treatment for chronic pain etiologies. The authors present the first known case of SCS for pain due to medullary sponge kidney disease. This report adds to the growing body of literature supporting the use of SCS for treating visceral organ pain, while also highlighting the utility of ventral lead placement for treating visceral pain...

RATIONALE: Pheochromocytomas are a group of tumors with high genetic heterogeneity, and the clinical characteristics of rearranged during transfection (RET)-mutated pheochromocytoma with medullary spongiform kidney are rarely studied. The treatment process of 1 patient with bilateral adrenal pheochromocytoma combined with medullary sponge kidney with RET gene mutation in our department was retrospectively analyzed, and the treatment methods for this type of disease were studied and summarized in combination with relevant literature...

Our paper presents the ultrasound (US) patterns of a rare kidney disease-medullary sponge kidney (MSK)-that have not been described before in comparison with other causes of medullary hyperechogenicity and correlates them with the severity of the disease and prognosis. This is a clinical observational study of all US examinations in the Nephrology Department over a period of 6 years. The abdominal US focused on the kidneys was recorded. US characteristics of the medulla and cortex were analyzed. We found 10 patients with characteristic daisy flower (DF) kidneys...

PURPOSE OF REVIEW: Nowadays, due to the increase of imaging diagnosis, we identify easily renal anomalies, and we can choose between a wide range of armamentarium to treat symptomatic stones in those challenging cases. However, there is a lack of evidence and consensus on its use. The aim of this narrative review is to collect all the available data about safety and efficacity of retrograde intrarenal surgery (RIRS) in the treatment of kidney stones associated to a renal anomaly. RECENT FINDINGS: Renal anomalies are uncommon findings and even more if it has to be associated with renal stones...

PURPOSE: To evaluate the effectiveness and safety of non-papillary prone PCNL for the treatment of patients with renal abnormalities. METHODS: An observational retrospective cohort study including PCNL cases of patients with renal abnormalities was performed. The following inclusion criteria were applied: renal stones > 1.5 cm with maximal diameter, anatomical malformations of affected kidney (malrotated kidneys, horseshoe kidneys and kidneys with complete duplicated systems, medullary sponge kidney), patients treated with standard (30Fr) PCNL or mini-PCNL (22Fr)...

Fibropolycystic liver disease is a continuum of disorders that result from insults to the ductal plate at different stages of development and are often associated with each other. Caroli's syndrome, polycystic liver disease, biliary hamartomas, and congenital hepatic fibrosis are included in this complex spectrum that also shows frequent association with renal anomalies, such as polycystic kidney disease and medullary sponge kidney. Choledochal cysts are a controversial point in this topic since they have long been considered part of this spectrum due to morphological similarities, but studies have shown different pathogenesis...

OBJECTIVE: To establish better diagnosis thinking and provide advanced understanding of MSK, the CT imaging features, clinical characteristics, and the expression of suspected genes in the kidney spatiotemporal immune zonation and fetal renal development were investigated. METHODS: 17 patients with MSK hospitalized in our hospital were selected as our research subjects. Human Phenotype Ontology, MalaCards: The Human Disease Database, GeneCards: The Human Gene Database, Human Protein Atlas, and Single Cell Expression Atlas were used to analyze this disease...

Amyloidosis is a large group of diseases that occur through misfolding of extracellular proteins that accumulate in tissues and organs. Gout is the most common inflammatory arthritis worldwide and starts with the crystallization of uric acid within the joints and soft tissues. Although gouty arthritis is accompanied by inflammation, AA amyloidosis is rarely seen in patients with gout. Here we present a case of AA amyloidosis on the medullary sponge kidney in a 28-year-old man with gout. Our case had been diagnosed with gout 3 years previously, and his older brother was also diagnosed with early-onset gout...

BACKGROUND: Medullary sponge kidney (MSK) disease is a rare and neglected congenital condition typically associated with nephrocalcinosis/nephrolithiasis, urinary concentration defects and cystic anomalies in the precalyceal ducts that, although sporadic in the general population, is relatively frequent in renal stone formers. The physiopathologic mechanism associated with this disease is not fully understood and omics technologies may help to address this gap. SUMMARY: The aim of this review is to provide an overview of the current state of the application of proteomics in the study of this rare disease...

Hypokalemic periodic paralysis has a high risk of life-threatening dysrhythmias. Hyperchloremic acidosis with hypokalemia is a dangerous condition. There are several causes of hypokalemia, in addition to common diseases, such as hyperthyroidism, hyperaldosteronism, and Cushing's syndrome; the other rare diseases include renal tubular acidosis (RTA), Bartter's syndrome, and Gitelman's syndrome. We present an unusual case of hypokalemic periodic paralysis, which was caused by a medullary sponge kidney with distal RTA...

BACKGROUND: Medullary sponge kidney is generally considered a benign condition, gold standard for the diagnosis is urography but it has almost been replaced by UroCT that did not present the same sensibility. Although it is really rare, our sonography's findings were consistent with medullary sponge kidney in the transplanted kidneys. CASE PRESENTATION: A 45-year-old woman with a long history of double-kidney transplantation complained of frequent urinary tract infections, a history of vague loin pain and came to our attention for sonography follow-up...

No abstract text is available yet for this article.

Spinal muscular atrophy, X-linked 2 (SMAX2) is a rare type of spinal muscular atrophy characterized by muscle weakness, hypotonia, areflexia, myopathic face, tongue fibrillations, contractures, bone fractures, and cryptorchidism. Variants of the UBA1 gene lead to SMAX2. The UBA1 gene encodes a protein that activates the ubiquitin pathway which is responsible for protein degradation. Here, we describe a family presenting with hypotonia, muscle weakness, areflexia, contractures, weak cry, in association with other anomalies including myopathic face, scoliosis, tongue fibrillations, and cryptorchidism...

No abstract text is available yet for this article.

No abstract text is available yet for this article.

BACKGROUND/AIMS: The prevalence of simple renal cysts increases with age; however, they are occasionally found in adults aged < 40 years. This cross-sectional study evaluated the clinical significance of simple cysts in young adults, focusing on their associations with hematuria and albuminuria. METHODS: Adults aged < 40 years who underwent comprehensive medical examination between January 2005 and December 2013 were included. Simple renal cysts were identified by ultrasonography...