This is an Open Access article distributed under the terms of the Creative Commons Attribution Licens

AA Davidson

Abdul-Rahman Shahein

AF Lalli

BS Abeshouse

C Pesce

CL Mcllwaine

F Hildebrandit

HB Patriquin

JM Ginalski

K Belde

K Toyoda

Mohamed El-Sawi

R Denis

T Sluysmans

English

PubMed

Crossref

CASE REPORT Open AccessCancerous pericarditis presenting as cardiactamponade in a 68-year-old man withpancreatic adenocarcinoma: a case reportSachie Kiryu1, Zensho Ito1*, Masashi Ishikawa1, Takafumi Akasu1,2, Yoshihiro Matsumoto1, Shinichi Hirooka2,Masayuki Saruta3 and Shigeo Koido1AbstractIntroduction: Pericardial effusion is a rare complication of pancreatic cancer. We report a case of cardiactamponade secondary to pancreatic cancer.Case presentation: A 68-year-old Japanese man was diagnosed as having pancreatic cancer during surgery andreceived chemotherapy for 28 months after the diagnosis. He was admitted to the emergency room with severedyspnea. Echocardiography revealed pericardial effusion with severe hypofunction. Emergency pericardial drainagewas performed to maintain hemodynamics, which resulted in the elimination of 450 mL of blood and themaintenance of circulatory dynamics. Cytological examination of the pericardial fluid revealed atypical cells andtumor cells suggesting adenocarcinoma.Conclusions: To our knowledge, pancreatic cancer complicated with cancerous pericarditis has not been previouslydocumented. This case highlights the extreme severity of pericardial effusion, a sign of progressive disease,secondary to pancreatic cancer. In the case of neoplastic pericardial effusion, an extremely poor prognosis must beconsidered.Keywords: Pancreatic cancer, Cardiac tamponadeIntroductionMalignant pericardial effusion caused by carcinomatouspericarditis is a complication of advanced malignancy.Pericardial effusion may cause cardiac tamponade andsudden death if not properly controlled. Cardiac tam-ponade as a complication of pancreatic cancer is veryrare. Cardiac tamponade caused by carcinomatous peri-carditis induces the retention of pericardial fluid, causingpericardial effusion, and must be treated promptly as anoncologic emergency [1]. Emergency treatment is neces-sary to prevent sudden death and relieve symptoms ofpericardial effusion in patients with neoplastic cardiactamponade [2]. To the best of our knowledge, pericardialinvolvement in patients with pancreatic cancer has neverbeen reported. Here, we report a case of metastatic pan-creatic cancer complicated by pericardial effusion.Case reportA 68-year-old Japanese man was suspected of havingpancreatic cancer 3 years previously due to an increasein carbohydrate antigen (CA)19-9. Abdominal computedtomography (CT) revealed a 26-mm hypoechoic masson the head of his pancreas and liver metastasis. Endo-scopic ultrasonography (EUS) and fine-needle aspiration(FNA) of the pancreatic mass revealed adenocarcinoma.He was diagnosed as having Stage IV unresectable© The Author(s). 2020 Open Access This article is licensed under a Creative Commons Attribution 4.0 International License,which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you giveappropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate ifchanges were made. The images or other third party material in this article are included in the article's Creative Commonslicence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commonslicence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtainpermission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/.The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to thedata made available in this article, unless otherwise stated in a credit line to the data.* Correspondence: zensho@jikei.ac.jp1Division of Gastroenterology and Hepatology, Department of InternalMedicine, The Jikei University School of Medicine, Kashiwa Hospital, 163-1Kashiwa-shita, Kashiwa, Chiba 277-8567, JapanFull list of author information is available at the end of the articleKiryu et al. Journal of Medical Case Reports          (2020) 14:213 https://doi.org/10.1186/s13256-020-02546-ypancreatic cancer, and gemcitabine (GEM) plus nano-particle albumin-bound paclitaxel (nab-PTX) doubletchemotherapy was administered. After 2 years of GEM/nab-PTX chemotherapy, progression of the disease wasconfirmed; therefore, the chemotherapy regimen waschanged to GEM + tegafur-gimeracil-oteracil (S1). Sixmonths later, he experienced dyspnea and visited theclinic after a few days of experiencing symptoms. CT re-vealed pericardial effusion and bilateral pleural effusion.Laboratory tests revealed elevated C-reactive protein(CRP) at 6.23 mg/dL. Pneumonia was treated with beta-lactam antibiotics. Therefore, he was diagnosed ashaving pneumonia and heart failure. The following day,his blood oxygen saturation was 90% on room air, andhe had tachycardia (110 beats per minute) and hyper-thermia (37.2 °C). His blood pressure was 86/67 mmHg.Respiratory and circulatory failure was managed in anemergency room. Electrocardiography revealed sinustachycardia, and echocardiography revealed a severepericardial swinging heart motion (Fig. 1a and b). Peri-cardial drainage was performed through a pericardialwindow, resulting in the drainage of 450 mL of blood,and the pericardial fluid was subjected to cytologicalexamination. Cytological examination of the fluid re-vealed tumor cells indicating adenocarcinoma. Bloodlevels of CA19-9 and carcinoembryonic antigen (CEA)were 5.8 ng/mL and 50 IU/mL, respectively, which grad-ually increased during the course of treatment, suggest-ing pancreatic cancer progression. A pericardial drainagetube was removed after improvement in his general con-dition. One week after the surgical procedure, intraven-ously administered chemotherapy with GEM/nab-PTXwas re-initiated. Sixteen days after re-initiation ofchemotherapy, he was admitted to the emergency roomand died of cardiac arrest due to severe respiratory fail-ure without evidence of recurrent pericardial effusion.In this case, a pathological autopsy was performed. Onmacroscopic examination, the parietal pericardium andvisceral pericardium had adhered, indicating cancerouspericarditis (Fig. 2a). Pericardial effusion was not ob-served. On microscopic examination, a large number oftumor cells had infiltrated the pericardium, and somehad infiltrated the lymph vessels of the myocardium(Fig. 2b and c). These results suggest pericardial metas-tasis of pancreatic cancer.DiscussionCarcinomatous pericarditis is observed in 10–20% of pa-tients with malignancies, with the most common malig-nancies being lung cancer, breast cancer, leukemia, andmalignant lymphoma. According to a study by Bergeand Sievers, malignant tumor metastasis involving thepericardium was observed in 50% of autopsies of pa-tients with metastatic malignant tumors [3]. Pericardialmetastasis does not frequently cause cardiac tamponade.However, cardiac tamponade is a life-threatening condi-tion requiring prompt diagnosis and treatment. Cardiactamponade is the lethal phase of neoplastic pericarditisresulting from cardiac compression and the accumula-tion of pericardial fluid. Intrapericardial pressure in-creases and cardiac relaxation is inhibited, leading to lowoutput; patients often experience dyspnea, hypotension,tachycardia, cold sweats, and fatigue [4]. When symp-toms occur, echocardiography should be performedsince it is the most useful examination for diagnosingpericardial effusion and detecting signs of tamponade.Although the diagnosis of cardiac tamponade is basedon established clinical criteria, an accurate and earlydiagnosis of tamponade can often be established usingechocardiography [5].When neoplastic cardiac tamponade is diagnosed,drainage by pericardiocentesis should be performed torelieve symptoms and prevent sudden death. A high rateof recurrence (40–70%) has been reported due to thepersistence of carcinomatous pericarditis-induced peri-cardial effusion [6]. Therefore, systemic and localizedFig. 1 a Computed tomography findings. Extensive pericardial effusion and bilateral pleural effusion. b Echocardiography (apical four-chamberview) findings. An echo-free space around the heart revealed severe pericardial effusion. LA left atrium, LV left ventricle, RA right atrium, RVright ventricleKiryu et al. Journal of Medical Case Reports          (2020) 14:213 Page 2 of 4treatment should be provided to suppress pericardialeffusion. Localized treatment includes percutaneousdrainage, anticancer agent injection to destroy pericar-dial adhesions, and surgical resection of the pericardium.The most appropriate procedure should be selectedbased on the patient’s general condition. Intrapericardialtreatment should be tailored to the type of tumor. Forexample, tris(1-aziridinyl)phosphine sulfide (Thiotepa) isrecommended for patients with breast cancer, and cis-platin is recommended for patients with lung cancer [7].The course after pericardial drainage has been reportedto vary according to the type of cancer [4].Malignant pericardial effusion is associated with anunfavorable prognosis. Wang et al. and Gross et al. re-ported that the mean survival times after detection ofmalignant pericardial effusion by pericardiocentesis were3.1 and 3.7 months, respectively [8, 9]. To the best ofour knowledge, no reports of intrapericardial treatmentor endocardial treatment in patients with pancreatic can-cer are available. We continued only systemic treatmentbecause intrapericardial treatment could have causeddiastolic dysfunction.Several mechanisms regarding primary tumor metasta-sis to the pericardial cavity have been proposed, includ-ing lymphatic spread, hematogenous spread, systemicspread via nerves, and direct extension. Most tumorsmetastasize to the heart through the mediastinal lymphnodes. An autopsy was performed in this case, and amain lesion in the head of the pancreas with extensivefibrosis was observed. Moreover, active tumor cellsremained. Vessel invasion and nerve invasion were ob-served, which were considered to have caused the metas-tasis to other organs. In the heart, the pericardium andmyocardium showed strong tumor adhesion, which wasconsidered indicative of cancerous pericarditis. Tumorcell infiltration was observed around almost the entirepericardium, and extensive lymphatic and nerve invasionwas observed. Tumor cells also spread to the lymphaticvessels in the heart parenchyma, and some had infil-trated between myocardial fibers. Reports indicate thataminoglycoside antibacterial agents reduced cardiac con-tractility [10]. In this case, these types of antibiotics werenot used, and the occurrence of cardiac dysfunction wasconsidered unlikely. From the pathological results, theinfiltration of cancer cells into the myocardium was con-sidered remarkable, and the progression of the cancercaused a decrease in cardiac function, ultimately leadingto death. Similar to that in the pericardium, severelymphatic invasion and venous invasion were observedin several organs. Therefore, the tumor was consideredto have reached the pericardium via a lymphatic orhematogenous route where it formed an infiltrating le-sion. In the lung, metastasis formation, intravasculartumor embolism, and pleural dissemination wereFig. 2 a Cancerous pericarditis: the parietal pericardium and visceral pericardium adhered to each other (arrow heads) and exhibited tumorinfiltration (arrow). b Hematoxylin and eosin-stained pericardial tissue. A large number of tumor cells infiltrated the pericardium. Tumor cellsinfiltrated the lymph vessels of the myocardium (× 20). c Hematoxylin and eosin-stained pericardial tissue. A large number of tumor cellsinfiltrated the myocardium (× 20). d Immunostained (D2–40) pericardial tissue. Findings of pericardial lymphatic invasion and lymphaticmetastasis (× 100)Kiryu et al. Journal of Medical Case Reports          (2020) 14:213 Page 3 of 4observed. The bronchiolar and bronchial walls showedhigh degrees of tumor invasion, and the peripheral air-way was constricted, likely causing respiratory failure.Debilitation occurred throughout the body due to cach-exia. Hepatic dysfunction occurred due to tumor infiltra-tion into the liver. Thus, in this case, the cause of deathwas considered tumor metastasis, including pericardialmetastasis, throughout the body. Pericardial metastasisof pancreatic cancer may suggest cancer metastasisthroughout the whole body.ConclusionPericardial metastasis and cardiac tamponade in pancre-atic cancer are extremely rare. In this case, lymphaticand vascular invasion caused metastasis to the pericar-dium and myocardium. In our patient, the interval be-tween tamponade and death was very short (42 days).Pericardial metastasis may be an indication of systemicmetastases, and tamponade can be considered an indica-tor of a poor prognosis. These possibilities are importantto consider when pericardial effusion develops in pa-tients with pancreatic cancer.Authors’ contributionsSKi and ZI wrote the manuscript. MI and TA analyzed and interpreted thepatient’s images, managed the case, and edited the manuscript. SHperformed the histological examination and was a major contributor towriting the manuscript. SKi and SKo clinically treated the patient. SKo andMS critically reviewed the manuscript and provided significant assistance inwriting the manuscript. All authors have read and approved the final versionof the manuscript.FundingThe authors did not obtain specific grant funding for this research. Theauthors declare that they have no competing interests.Ethical approval and consent to participateThis study was conducted in accordance with the basic principles of theDeclaration of Helsinki.Consent for publicationWritten informed consent was obtained from the patient’s next of kin forpublication of this case report and any accompanying images. A copy of thewritten consent is available for review by the Editor-in-Chief of this journal.Competing interestsNone declared.Author details1Division of Gastroenterology and Hepatology, Department of InternalMedicine, The Jikei University School of Medicine, Kashiwa Hospital, 163-1Kashiwa-shita, Kashiwa, Chiba 277-8567, Japan. 2Department of Pathology,The Jikei University School of Medicine, Kashiwa Hospital, Kashiwa City, Chiba277-8567, Japan. 3Division of Gastroenterology and Hepatology, Departmentof Internal Medicine, The Jikei University School of Medicine, Tokyo 105-8461,Japan.Received: 14 August 2020 Accepted: 2 October 2020References1. Vaitkus PT, Herrmann HC, LeWinter MM. Treatment of malignant pericardialeffusion. JAMA. 1994;272:59–64.2. Buck M, Ingle JN, Giuliani ER, Gordon JR, Therneau TM. Pericardial effusionin women with breast cancer. Cancer. 1987;60:263–9.3. Berge T, Sievers J. Myocardial metastases. A pathological andelectrocardiographic study. Br. Heart J. 1968;30:383–90.4. Takayama T, Okura Y, Okada Y, Honma K, Nashimoto A, Sato N, et al.Characteristics of neoplastic cardiac tamponade and prognosis afterpericardiocentesis: a single-center study of 113 consecutive cancer patients.Int J Clin Oncol. 2015;20:872–7.5. Cheitlin MD, Armstrong WF, Aurigemma GP, Beller GA, Bierman FZ, Davis JL,et al. ACC/AHA/ASE 2003 guideline update for the clinical application ofechocardiography--summary article: a report of the American College ofCardiology/American Heart Association Task Force on Practice Guidelines(ACC/AHA/ASE Committee to Update the 1997 Guidelines for the ClinicalApplication of Echocardiography). J Am Coll Cardiol. 2003;42:954–70.6. Adler Y, Charron P, Imazio M, Badano L, Baron-Esquivias G, Bogaert J, et al.2015 ESC Guidelines for the diagnosis and management of pericardialdiseases. Kardiol Pol. 2015;73:1028–91.7. Adler Y, Charron P, Imazio M, Badano L, Baron-Esquivias G, Bogaert J, et al.2015 ESC Guidelines for the diagnosis and management of pericardialdiseases: The Task Force for the Diagnosis and Management of PericardialDiseases of the European Society of Cardiology (ESC) Endorsed by: TheEuropean Association for Cardio-Thoracic Surgery (EACTS). Eur Heart J. 2015;36:2921–64.8. Wang ML, Liao WB, Bullard MJ, Lin FC, Lin PJ, Chiang CW, et al. Cardiactamponade in Taiwan. Jpn Circ J. 1997;61:767–71.9. Gross JL, Younes RN, Deheinzelin D, Diniz AL, Silva RA, Haddad FJ. Surgicalmanagement of symptomatic pericardial effusion in patients with solidmalignancies. Ann Surg Oncol. 2006;13:1732–8.10. Adams HR et al. Cardiac toxicities of antibiotics. Environ Health Perspect.1978;26:217-23.Publisher’s NoteSpringer Nature remains neutral with regard to jurisdictional claims inpublished maps and institutional affiliations.Kiryu et al. Journal of Medical Case Reports          (2020) 14:213 Page 4 of 4

Medullary sponge kidney presenting in a neonate with distal renal tubular acidosis and failure to thrive: a case report

Abstract
              
                Introduction
                Medullary sponge kidney is a congenital anomaly characterized by diffuse ectasy of the collecting tubules of one or both kidneys. It is usually diagnosed in the second or third decade of life.
              
              
                Case presentation
                Distal renal tubular acidosis is commonly observed in patients with medullary sponge kidney. We describe here a 50-day-old Egyptian Caucasian girl with medullary sponge kidney who had features of distal renal tubular acidosis, (persistent alkaline urine, hypercalciuria, hypocitraturia) and failure to thrive. Renal ultrasound revealed left renal increased medullary echogenicity and bilateral nephrocalcinosis.
              
              
                Conclusion
                Early gene(s) expression of medullary sponge kidney disease might be responsible for persistent metabolic acidosis during the neonatal period

El-Sawi, Mohamed

Shahein, Abdul-Rahman

TSpace Repository

University of Toronto Research Repository

Abstract Introduction Medullary sponge kidney is a congenital anomaly characterized by diffuse ectasy of the collecting tubules of one or both kidneys. It is usually diagnosed in the second or third decade of life. Case presentation Distal renal tubular acidosis is commonly observed in patients with medullary sponge kidney. We describe here a 50-day-old Egyptian Caucasian girl with medullary sponge kidney who had features of distal renal tubular acidosis, (persistent alkaline urine, hypercalciuria, hypocitraturia) and failure to thrive. Renal ultrasound revealed left renal increased medullary echogenicity and bilateral nephrocalcinosis. Conclusion Early gene(s) expression of medullary sponge kidney disease might be responsible for persistent metabolic acidosis during the neonatal period.</p

El-Sawi Mohamed

Shahein Abdul-Rahman

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Journal of Medical Case Reports

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Case report Open Access
Medullary sponge kidney presenting in a neonate with distal renal
tubular acidosis and failure to thrive: a case report
Mohamed El-Sawi1 and Abdul-Rahman Shahein2*
Address: 1Department of Medical Genetics, Ain Shams Medical School, 38 Abbassia, Cairo, Egypt and 2Department of Pediatrics,
University of Toronto, 555 University Ave, Ontario, Canada M5G 1X8
Email: MES - elsawi55@yahoo.com; ARS* - abdulrahman.shahein@utoronto.ca; abdul-rahman.shahein@sickkids.ca
*Corresponding author
Published: 29 April 2009 Received: 4 July 2008
Accepted: 27 November 2008
Journal of Medical Case Reports 2009, 3:6656 doi: 10.1186/1752-1947-3-6656
This article is available from: http://jmedicalcasereports.com/jmedicalcasereports/article/view/3/4/6656
© 2009 El-Sawi and Shahein; licensee Cases Network Ltd.
This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0),
which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
Abstract
Introduction: Medullary sponge kidney is a congenital anomaly characterized by diffuse ectasy
of the collecting tubules of one or both kidneys. It is usually diagnosed in the second or third decade
of life.
Case presentation: Distal renal tubular acidosis is commonly observed in patients with medullary
sponge kidney. We describe here a 50-day-old Egyptian Caucasian girl with medullary sponge kidney
who had features of distal renal tubular acidosis (persistent alkaline urine, hypercalciuria,
hypocitraturia) and failure to thrive. Renal ultrasound revealed left renal increased medullary
echogenicity and bilateral nephrocalcinosis.
Conclusion: Early gene(s) expression of medullary sponge kidney disease might be responsible for
persistent metabolic acidosis during the neonatal period.
Introduction
Medullary sponge kidney (MSK) is a rare developmental
abnormality characterized by cystic dilatation of the
collecting tubules in one or more renal pyramids in one
or both kidneys. Its precise prevalence is not known.
Moreover, its pathogenesis is unknown but most authors
agree that it is a congenital anomaly with delayed
expression [1]. On the other hand, familial forms have
also been described and the dominant mode of transmis-
sion has been proposed. Medullary sponge kidney is
usually diagnosed in people aged 10 to 30 years on the
basis of laboratory and radiological findings [2]. Discovery
of a responsible gene(s) would be a great step forward in
understanding the disease.
Case presentation
A 50-day-old Egyptian Caucasian girl was referred to our
department for persistent vomiting, dehydration and
disturbed conscious level. The patient was born full
term, 3500kg (+1 SD) by normal vaginal delivery, with a
cephalic presentation. Her mother is 26 years old, G3P3
with no family history of renal diseases and her husband is
a first cousin. The mother reported the death of her second
offspring, a girl, at the age of 3 months due to fever,
Page 1 of 4
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vomiting and diarrhea. The condition appeared to be
gastroenteritis but no medical or laboratory records are
available. The first offspring of the parents is a 4-year-old
healthy living girl.
Our patient’s complaint started with persistent vomiting
and dehydration when she was 15 days old. She was
admitted to the neonatal intensive care unit (NICU) for 4
days with no significant improvement. Soon after dis-
charge, her mother noticed an increase in her child’s rate of
breathing and presented to the medical facility again. Only
serum ammonia was available during this period: 109
mmol/L (N: < 81 mmol/L).
At the age of 45 days, the patient’s conscious level
deteriorated, suckling decreased and she was admitted to
the pediatric intensive care unit (PICU). On admission, her
modified Glasgow Coma Scale (GCS) was 12, she had
severe dehydration with dry mucous membranes, poor
perfusion (capillary refill: 5s), a temperature of 38.2 0C,
weight 3300kg (−2.8 SD) and bilateral diffuse sonorous
rhonchi over her chest. Her complete blood count showed
mild absolute neutrophilia with neutrophils (NE) 63%, C-
reactive protein (CRP) 24mg/dL (N < 6), chest anteropos-
terior (AP)/lateral X-ray images were free from pneumonic
patches, serum creatinine 1.1mg/dL (N: 0.3 to 1.0), and
blood urea nitrogen (BUN) 31mg/dL (N: 7 to 22). Her chest
infection and dehydration were successfully treated with
third generation cephalosporins and intravenous fluids.
Our patient was then strongly considered to have distal
renal tubular acidosis (dRTA) based on the presence of the
following: failure to thrive, growth retardation, hyper-
chloremic metabolic acidosis with respiratory alkalosis
and persistent alkaline urine (pH > 7). Urine and blood
tests were performed to confirm the diagnosis and
distinguish between proximal and distal renal tubular
acidosis (Table 1).
She started to receive intravenous bicarbonate infusion
and potassium supplementation with partial response.
Pelvi-abdominal ultrasound (U/S) revealed bilateral
nephrocalcinosis and left renal increased medullary
echogenicity with a picture suggestive of medullary sponge
kidney (Figures 1 and 2). She had no abnormality in
auditory brainstem response and in a skeletal survey. After
1 month of treatment with oral bicarbonate 3meq/kg/day,
KCl 2meq/kg/day, patient vomiting and weight improved.
The last laboratory tests were as follows: pH 7.435 (N: 7.35
to 7.45), HCO3
− 20.9mmol/L (N: 21 to 28), PvCO2
29.6mmHg (N: 37 to 47), Cl− 110meq/L (N: 96 to 106),
Na+ 134meq/L (N: 138 to 145), K+ 3.9meq/L (N: 3.5 to
5.0), serum creatinine 0.3mg/dL (N: 0.3 to 1.0). Her
growth over 6 months of follow-up after treatment
showed a marked improvement (Figure 3).
Discussion
Our patient clearly developed a significant hyperchloremic
metabolic acidosis with respiratory alkalosis and normal
anion gap during her neonatal period associated with
recurrent infection, failure to thrive and renal nephrocal-
cinosis. The presence of hyperechoic medulla in her left
kidney raised the diagnosis of medullary sponge kidney as
an underlying cause (Figure 1).
Although the above sonographic appearance of MSK is non-
specific, the degree of confidence of ultrasound in diagnos-
ing MSK is still superior to other radiological techniques
[3,4]. Hyperechoic medulla with or without shadowing has
Table 1. Laboratory evaluation of the patient on admission
Tests Results
Urine
Specific gravity 1008
pH 8
Glucose Normal
Proteins Normal
Aminogram Normal
Citrate 1.2mg/kg/day (N > 2.0)
Calcium 12.3mg/kg/day (N < 5.0)
Blood
pH (Venous) 7.28 (N: 7.35–7.45)
PCO2 (Venous) 25.8mmHg (N: 37–47)
HCO3
− (Venous) 11.9mmol/L (N: 21–28)
Na 132meq/L (N: 138–145)
K 1.4meq/L (N: 3.5–5.0)
Cl 113meq/ (N: 96–106)
Uric acid 2.9mg/dL (N: 2.0–5.5)
Ca 9.7mg/dL dL (N: 8.8–10.8)
P 3.1mg/dL (N:4.5–5.5)
Serum anion gap 8
Serum NH3 58.19 mmol/L (N: < 81 mmol/L)
Figure 1.
Left kidney ultrasound showing nephrocalcinosis and
hyperechoic renal medulla; spongy appearance.
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Journal of Medical Case Reports 2009, 3:6656 http://jmedicalcasereports.com/jmedicalcasereports/article/view/3/4/6656
been documented in gout, Sjögren syndrome, systemic
lupus erythematosus, hyperparathyroidism [5], glycogen
storage diseases, Wilson disease, primary aldosteronism,
and pseudo-Bartter syndrome [6]. Yet these etiologies were
excluded in our patient both clinically and from the results
of laboratory tests. Intravenous pyelography (IVP) is
another radiological measure of high value in diagnosing
MSK, but it was refused by her parents.
Patient growth curves were delayed and she suffered from
failure to thrive (Figure 3). Moreover, after resuming
proper feeding, her growth velocity remained below
normal levels for the following 6 months. Sluysmans
et al. [7] reported a 12-year-old girl with medullary sponge
kidney and failure to thrive who responded on alkali
therapy.
To our knowledge, there is no previously published work
about MSK associated with dRTA as a cause of persistent
metabolic acidosis during the neonatal period. Medullary
sponge kidney is usually diagnosed in the second or third
decade of life due to delayed expression of the gene(s)
responsible for this anomaly, although Belde et al. [8]
reported a 5-year-old girl with MSK and growth retarda-
tion. This may indicate the possibility of early gene(s)
expression in MSK.
The expected renal outcome in MSK is excellent as long as
urinary tract infections and nephrolithiasis can be
prevented [9]. Although significant renal impairment is
uncommon for this disorder, Pesce et al. [10] reported a
child with bilateral medullary sponge kidney and chronic
renal insufficiency.
Fewer than 5% of cases are familial and a clear genetic
basis for medullary sponge kidney has not been estab-
lished. The only genetic pattern observed in select
pedigrees is an autosomal dominant type of transmission
[2,11,12].
Conclusion
Medullary sponge kidney associated with dRTA should be
considered in neonates and may indicate the possibility of
very early expression of the genetic disease.
Simple oral alkali therapy is sufficient to treat some
metabolic disorders associated with renal tubular
dysfunction.
Abbreviations
AP, anteroposterior; BUN, blood urea nitrogen; CRP, C-
reactive protein; PICU, pediatric intensive care unit; NICU,
neonatal intensive care unit; GCS, Glasgow Coma Scale;
IVP, intravenous pyelography; N, normal; dRTA, distal
renal tubular acidosis; U/S, ultrasound; meq, mille
equivalent; PvCo2, partial pressure of venous carbon
dioxide; MSK, medullary sponge kidney; NE, neutrophils.
Consent
Written informed consent was obtained from the father of
the patient for publication of this case report. A copy of the
written consent is available for review by the Editor-in-
Chief of this journal.
Figure 3.
Growth curve; patient growth dramatically improved after
correction of electrolyte deficiency.
Figure 2.
Right kidney ultrasound showing diffuse nephrocalcinosis.
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Journal of Medical Case Reports 2009, 3:6656 http://jmedicalcasereports.com/jmedicalcasereports/article/view/3/4/6656
Competing interests
The authors declare that they have no competing interests.
Authors’ contributions
ME interpreted the patient data regarding the genetic
inheritance of medullary sponge kidney. AS analyzed and
interpreted the patient’s clinical presentation regarding
renal disease associated with medullary sponge kidney. All
authors read and approved the final manuscript.
Acknowledgements
I would like to express my profound gratitude to Professor
Dr Salah El Kholy for his leadership and support.
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Journal of Medical Case Reports 2009, 3:6656 http://jmedicalcasereports.com/jmedicalcasereports/article/view/3/4/6656
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http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.356.6005

Medullary sponge kidney presenting in a neonate with distal renal tubular acidosis and failure to thrive: a case report

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