BACKGROUND: Medullary sponge kidney (MSK)is rare in association with glomerulonephritis. We report a patient with medullary sponge kidney, and the kidney biopsy revealed a diagnosis of IgA nephropathy.
METHODS: A 27-year-old female presented with hematuria and proteinuria, and imaging studies indicated the presence of medullary spongy kidney. With appropriate preparation, a kidney biopsy was performed. Considering the patient\'s clinical and pathological characteristics, the final diagnosis was determined to be medullary sponge kidney associated by IgA nephropathy. The combination of corticosteroids and angiotensin receptor blockers (ARBs) proved to be significantly effective in reducing proteinuria in the current case. To the best of our knowledge, this is the first reported case that demonstrates the coexistence of MSK and IgA nephropathy.
CONCLUSIONS: Administering precise therapy based on renal pathology can potentially enhance outcomes for patients with renal conditions, necessitating the need for clinicians to be vigilant about differential diagnosis in order to reduce the rates of missed diagnoses and misdiagnosis.

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.
METHODS: 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. Over the course of a long follow-up, her kidneys maintained size within the upper limits but showed an increase by age 7. Genetic analysis identified PKHD1 variants, which required structural predictive tools to guide clinical diagnosis. Until the age of 7, her kidney function has remained intact; however, her prognosis is uncertain.
CONCLUSIONS: NC in newborns is a rare condition, but its incidence is rising. Recurrent urinary infections or kidney stones may lead to kidney failure. A proactive approach in sporadic NC enables an early diagnosis to orientate clinical supervision and facilitates counseling to support family planning decisions.

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 3 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. We showed that many patients with MSK phenotypes are genetically tested with a gene panel which does not contain dRTA-associated genes, revealing opportunities for missed genetic diagnosis. Our cases highlight that the radiological description of MSK is not a straightforward disease or clinical phenotype. Therefore, when an MSK appearance is noted, a broader set of causes should be considered including genetic causes of primary dRTA as the underlying reason for medullary imaging abnormalities.

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. This case raises questions of etiology including possible immune deficiency and whether his uncommon microbial history contributes to recurrent stone formation.

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.
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. The high-risk group was compared to the remaining patients (control group) using the Wilcoxon rank-sum test.
RESULTS: Of 1499 patients with active KSD included in the study, the high-risk group included 120 patients. The high-risk group had significantly lower HRQOL scores compared to the control group (P < 0.01). In the multivariable analyses, medullary sponge kidney disease and renal tubular acidosis were independent predictors of poorer HRQOL, while alkali therapy was an independent predictor of better HRQOL (all P < 0.01).
CONCLUSIONS: Among patients with active KSD, high-risk stone formers had impaired HRQOL with medullary sponge kidney disease and renal tubular acidosis being independent predictors of poorer HRQOL. Clinicians should seek to identify these patients earlier as they would benefit from prompt treatment and prevention.

Medullary sponge kidney (MSK) is a rare renal malformation characterized by precalyceal tubular ectasia of the renal collecting ducts that clinically manifests as recurrent renal stones, distal renal tubular acidosis (dRTA), osteoporosis, and nephrocalcinosis. In this case report, we present the case of a woman with a severe form of MSK associated with dRTA. She had extensive nephrocalcinosis and obstructive uropathy caused by a large upper ureteric stone in the left kidney. The stone was disintegrated by flexible ureteroscopic laser lithotripsy. Her initial biochemical derangements were identified and corrected with a Polycitra-K solution and hydrochlorothiazide, leading to reduced stone load and osteopenia 1 year later.

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. As SCS utilization increases, it is expected that there will be a decrease in opioid consumption, and this will help us contain the opioid epidemic.
Chronic pain is one of the most common reasons that people in the USA seek medical care. It is associated with an increased reliance on opioids, anxiety, depression and a lower quality of life. Over the past 50 years, a treatment modality known as spinal cord stimulation (SCS) has emerged and evolved. Based on evidence, SCS has shown promising results in treating chronic pain related to different causes and has also led to an improvement in the quality of life in those suffering from pain. In this case report, the authors present a case of a patient with chronic pain due to recurrent kidney stones secondary to their hereditary kidney disease, and who responded well to treatment with SCS. The patient self-reported almost 80% pain relief after undergoing treatment with SCS as well as an improved quality of life, based on their ability to engage in their daily professional and leisurely activities without being so restricted by pain from their recurrent kidney stones. This case report adds to the growing body of literature that underscores the utility of SCS in treating a variety of pain mediated pathologies. As SCS continues to show promising results, we hope that SCS usage to target pain will increase, and this will lead to a decrease in opioid prescriptions and help curb the opioid epidemic.

To describe the clinical presentation, imaging evaluation, endovascular management, and outcomes of multifocal renal capsular haemorrhage, \"weeping sponge kidney\", and to identify associated risk factors and the pathophysiological mechanism behind this condition.
This is a case series in which clinical information for each of the cases was collected retrospectively from electronic patient notes as well as the radiology information and picture archiving and communication systems.
Four consecutive cases were included in the series. All of the cases were treated successfully with embolisation. Three of the four patients had chronic renal failure with renal atrophy, which are patient factors that appear to be associated with multifocal renal capsular haemorrhage. Based on the procedural findings and the published literature, a pathophysiological mechanism is described to explain this condition and the relevance of the collateral arterial supply to the kidney in such cases is discussed.
Small subcapsular haematomas are usually self-limiting but in patients with renal failure, there may be an increased risk of developing a weeping sponge kidney, which can be life-threatening. The endovascular treatment for multifocal haemorrhage differs from that for a single bleeding point, especially if preservation of renal function is not a priority.

BACKGROUND: 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.
METHODS: In this case, the patient was found to have bilateral adrenal masses for 8 years due to physical examination, and intermittent dizziness and discomfort for 2 years. Imaging and related laboratory examinations suggest bilateral adrenal giant pheochromocytoma with bilateral medullary sponge kidney. RET gene testing was performed on the patient and his descendant after signing the informed consent form.
METHODS: The patient was diagnosed with bilateral adrenal pheochromocytoma with a RET proto-oncogene mutation and a bilateral medullary spongy kidney.
UNASSIGNED: After sufficient perioperative preparation, retroperitoneal laparoscopic bilateral adrenal pheochromocytoma resection was performed by stages. The operation was successful, and hormone replacement therapy was performed after the operation, with regular follow-up. Relevant genetic testing revealed that the c.1900T > C: p.C634R mutation was detected in the patient\'s RET gene, which was a heterozygous missense mutation, and the mutation was also present in the son of his family. A literature analysis found that pheochromocytoma is a tumor with high genetic heterogeneity, and the RET proto-oncogene is a common pathogenic gene for bilateral adrenal pheochromocytoma. Medullary sponging of kidneys is a rare complication of this disease.
CONCLUSIONS: On the basis of adequate perioperative preparation, surgical resection is the most effective and preferred treatment for this type of disease. Laparoscopic surgery is minimally invasive, safe, and effective by stages. Mutations in the RET proto-oncogene may lead to medullary spongy kidneys in multiple endocrine neoplasia 2.

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. Positive diagnosis in association with other renal risk factors, prognosis, and evolution were evaluated. Two patterns of medullary hyperechogenicity were found and were correlated with disease severity and kidney function. The first pattern is a homogenous echogenicity of the medulla described as a \"daisy-like\" appearance. The second pattern: calcifications associated with medullar echogenicity, stone production, nephrocalcinosis, and impaired kidney function: \"atypical daisy-like.\" Medullary hyperechogenicity can have more US patterns. In MSK, if the medullary echogenicity is homogenous the evolution is benign, whereas the second, inhomogeneous pattern, has a variable clinical presentation with nephrocalcinosis and the outcome is more severe, leading to chronic kidney disease and impairing the quality of life.